MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Molecular Cytogenetics' source. Thu, 09 Feb 2012 16:56:51 +0100 http://www.medworm.com/index.php?rid=5664292&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F11 Low-Copy Repeats predispose the 15q11-q13 region to non-allelic homologous recombination. We have already demonstrated that a significant percentage of Prader-Willi syndrome (PWS) fathers have an increased susceptibility to generate 15q11q13 deletions in spermatozoa, suggesting the participation of intrachromatid exchanges. This work has been focused on assessing the incidence of de novo 15q11q13 inversions in spermatozoa of control donors and PWS fathers in order to determine the basal rates of inversions and to confirm the intrachromatid mechanism as the main cause of 15q11q13 anomalies.Semen samples from 10 control donors and 16 PWS fathers were processed and analyzed by triple-color FISH. Three differentially labeled BAC-clones were used: one proximal and two distal of the 15q11-q13 re... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5664292 Mon, 06 Feb 2012 05:00:00 +0100 5664292 http://www.medworm.com/index.php?rid=5656519&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F10 Conclusions: The ability to use these archival specimens for DNA-based analysis increases the potential for retrospective genetic analysis of clinical specimens. Fixed cytogenetic preparations and long-term refrigerated bone marrow both provide DNA suitable for array karyotyping, and may be suitable for a wider range of analytical procedures. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5656519 Thu, 02 Feb 2012 05:00:00 +0100 5656519 http://www.medworm.com/index.php?rid=5656521&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F7 As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV) and 46 (9.2%) amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC) and long-term culture (LTC) cells. Overall, 19 (3.8%) abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13), two with a sex chromosomal aneuploidy (Klinefelter syndrome), one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the ST... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5656521 Fri, 27 Jan 2012 05:00:00 +0100 5656521 http://www.medworm.com/index.php?rid=5656520&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F8 We describe for the first time a double trisomy mosaicism, involving chromosomes 7 and 13 in a fetus presenting with multiple congenital anomalies. No evidence for chimerism was found by DNA genotyping. The origin of both trisomies are consistent with isodisomy of maternal origin. Therefore, it is most likely that the double trisomy mosaicism arose from two independent events very early in embryonic development. The trisomy 7 and 13 cells were shown to be of maternal origin. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5656520 Fri, 27 Jan 2012 05:00:00 +0100 5656520 http://www.medworm.com/index.php?rid=5617056&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F4 Conclusion: This is the first investigation of subtelomeric aberrations in a large sample set of familial ID patients. Our results show that the contribution of subtelomeric rearrangements to familial ID is not as much as what had been determined for sporadic ones in the literature. Moreover, this study shows that the positive family history by alone, cannot be the most important and determining indicator of subtelomeric aberrations while it would be a good predicting factor when associated with dysmorphism or congenital malformations. These findings propose that other cryptic chromosomal abnormalities or even single gene disorders may be the main cause of familial ID rather than subtelomeric aberrations. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5617056 Thu, 19 Jan 2012 05:00:00 +0100 5617056 http://www.medworm.com/index.php?rid=5617055&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F5 We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15. Discussion: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5617055 Thu, 19 Jan 2012 05:00:00 +0100 5617055 http://www.medworm.com/index.php?rid=5617054&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F6 Conclusions: Homologous recombination between HERVs on the same chromosome is known to cause chromosome deletions, but this is the first report of interchromosomal HERV-HERV recombination leading to a translocation. It is possible that normal sequence variation in substrates of non-allelic homologous recombination (NAHR) affects the alignment of recombining segments and influences the propensity to chromosome rearrangement. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5617054 Thu, 19 Jan 2012 05:00:00 +0100 5617054 http://www.medworm.com/index.php?rid=5604041&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F3 Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal) submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs) or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our result... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5604041 Mon, 16 Jan 2012 05:00:00 +0100 5604041 http://www.medworm.com/index.php?rid=5568948&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F1 DiscussionThe present case represents a further patient described in the literature with an interstitial deletion of chromosome 2q24.1q24.2. Our patient shares some clinical features with the previously reported patients carriers of overlapping 2q24 deletion. Although more cases are needed to delineate the full-blown phenotype of 2q24.1q24.2 deletion syndrome, published data and present observation suggest that hemizygosity of this region results in a clinically recognizable phenotype. Considering these clinical and cytogenetic similarities, we suggest the existence of an emerging syndrome associated to 2q24.1q24.2 region. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5568948 Tue, 03 Jan 2012 05:00:00 +0100 5568948 http://www.medworm.com/index.php?rid=5568947&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F5%2F1%2F2 Conclusions: We report a female patient with childhood-onset schizophrenia, ADHD, and motor tic disorder associated with an isodisomic isochromosome 13 of paternal origin and a 45,XX,i(13)(q10q10) karyotype. We examined two potential mechanisms to explain chromosome 13 involvement in the patient's pathology, including reduction to homozygosity of a paternal mutation and reduction to homozygosity of a paternal copy number variation, but were unable to identify any overtly pathogenic abnormality. Future studies may consider whether epigenetic mechanisms resulting from uniparental disomy (UPD) and the lack of chromosome 13 maternal alleles lead to the patient's features. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5568947 Tue, 03 Jan 2012 05:00:00 +0100 5568947 http://www.medworm.com/index.php?rid=5473673&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F28 DiscussionFor better understanding of genotype-phenotype correlation a new classification of 7q duplications which will be based on findings of molecular karyotyping is needed. Therefore, the description of well-defined patients is valuable. This case shows that FISH-microdissection is of great benefit for precise breakpoint designation in balanced rearrangements. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5473673 Mon, 05 Dec 2011 05:00:00 +0100 5473673 http://www.medworm.com/index.php?rid=5473674&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F27 Conclusions: We suggest that a CNV at 18p11.32 (528,050-2,337,486) may represent a new benign euchromatic variant. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5473674 Fri, 02 Dec 2011 05:00:00 +0100 5473674 http://www.medworm.com/index.php?rid=5417671&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F25 Conclusions: Our results show that microarray analysis will detect known aberrations, including microscopic and cryptic alterations. In addition, novel genomic changes will be uncovered that may become important prognostic predictors or treatment targets for CLL in the future. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5417671 Wed, 16 Nov 2011 05:00:00 +0100 5417671 http://www.medworm.com/index.php?rid=5417670&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F26 Background: Differentiated thyroid carcinoma offers a good model to investigate the possible correlation between specific gene mutations and chromosome instability. Papillary thyroid neoplasms are characterized by different mutually exclusive genetic alterations, some of which are associated with aneuploidy and aggressive phenotype. Results: We investigated the centrosome status and mitotic abnormalities in three thyroid carcinoma-derived cell lines, each maintaining the specific, biologically relevant gene alteration harbored by the parental tumors: RET/PTC1 rearrangement in TPC1; heterozygous and homozygous BRAFV600E mutation in K1 and in B-CPAP, respectively. B-CPAP cells showed a statistically significant (P (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5417670 Wed, 16 Nov 2011 05:00:00 +0100 5417670 http://www.medworm.com/index.php?rid=5396840&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F24 Conclusions: Due to the intense spreading of 5S rRNA and H3 histone genes in the genome of R. brasiliensis, their chromosomal distribution was not informative in the clarification of the origin of B elements. Our results indicate a linked organization for the 5S rRNA and H3 histone multigene families investigated in R. brasiliensis, reinforcing previous data concerning the association of both genes in some insect groups. The present findings contribute to understanding the organization/evolution of multigene families in the insect genomes. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5396840 Thu, 10 Nov 2011 05:00:00 +0100 5396840 http://www.medworm.com/index.php?rid=5310789&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F22 The past decade has witnessed an explosion of genome sequencing and mapping in evolutionary diverse species. While full genome sequencing of mammals is rapidly progressing, the ability to assemble and align orthologous whole chromosome regions from more than a few species is still not possible. The intense focus on building of comparative maps for companion (dog and cat), laboratory (mice and rat) and agricultural (cattle, pig, and horse) animals has traditionally been used as a means to understand the underlying basis of disease-related or economically important phenotypes. However, these maps also provide an unprecedented opportunity to use multispecies analysis as a tool for inferring karyotype evolution. Comparative chromosome painting and related techniques are now considered to be th... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5310789 Wed, 12 Oct 2011 04:00:00 +0100 5310789 http://www.medworm.com/index.php?rid=5310788&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F23 Conclusion: Wide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5310788 Wed, 12 Oct 2011 04:00:00 +0100 5310788 http://www.medworm.com/index.php?rid=5281495&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F21 Chromosome rearrangements involving telomeres have been established as one of the major causes of idiopathic mental retardation/developmental delay. This case of 7p partial trisomy syndrome in a 3-year-old female child presenting with developmental delay emphasizes the clinical relevance of cytogenetic diagnosis in the better management of genetic disorders. Application of subtelomeric FISH technique revealed the presence of interstitial telomeres and led to the ascertainment of partial trisomy for the distal 7p segment localized on the telomeric end of the short arm of chromosome 19. Whole-genome cytogenetic microarray-based analysis showed a mosaic 3.5Mb gain at Xq21.1 besides the approximately 24.5Mb gain corresponding to 7p15.3->pter. The possible mechanisms of origin of the chromosoma... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5281495 Mon, 03 Oct 2011 04:00:00 +0100 5281495 http://www.medworm.com/index.php?rid=5246373&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F19 Conclusion: Laryngomalacia or obstruction of the upper airway is the outcome of increased dosage of some genes due to Partial Trisomy 11q Syndrome. In association with other phenotypic features, agenesis of corpus callosum appears to be a landmark phenotype for Deletion 1q44 syndrome, the critical genes lying proximal to SMYD3 in 1q44 region. KEYWORDS: monosomy1q44, partial trisomy 11q, corpus callosum agenesis, laryngomalacia. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5246373 Wed, 21 Sep 2011 04:00:00 +0100 5246373 http://www.medworm.com/index.php?rid=5246372&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F20 Conclusion: We suggest that p53 is a good target gene to be screened, once p53 is one of the main effectors of cell cycle checkpoints. Keywords: T-ALL; childhood; near-tetraploidy. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5246372 Wed, 21 Sep 2011 04:00:00 +0100 5246372 http://www.medworm.com/index.php?rid=5204219&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F18 Conclusions: Although indirect, our results strongly suggest that the PATRR adopts unstable cruciform structures during spermatogenesis that act as translocation hotspots in humans. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5204219 Thu, 08 Sep 2011 04:00:00 +0100 5204219 http://www.medworm.com/index.php?rid=5155698&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F17 DiscussionTo our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in described features. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5155698 Sun, 21 Aug 2011 23:00:00 +0100 5155698 http://www.medworm.com/index.php?rid=5155699&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F16 Conclusion: We report, a novel and cytogenetically rare case of a biclonal MDS with complex chromosomal aberrations and deletion of RB1-gene in both clones. These findings are associated with a poor prognosis as the patient died 3 months after diagnosis. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5155699 Wed, 17 Aug 2011 23:00:00 +0100 5155699 http://www.medworm.com/index.php?rid=5106129&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F15 ${item.shortDescription} (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=5106129 Sun, 07 Aug 2011 23:00:00 +0100 5106129 http://www.medworm.com/index.php?rid=4951362&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F14 ConclusionsOur data indicated that ERBB2 and EGFR genetic abnormalities were associated with the prognosis of gastric cancer. Clinical assessment of ERBB2 and EGFR amplification may represent an important factor for the development of personalized treatment programs for gastic cancer. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4951362 Sun, 19 Jun 2011 23:00:00 +0100 4951362 http://www.medworm.com/index.php?rid=4801624&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F12 Conclusions: This study demonstrates the utility of using our newly developed whole-genome array CGH as first-tier test in 5080 pre and postnatal cases. Array CGH has increased the ability to detect segmental deletion and duplication in patients with variable clinical features and is becoming a more powerful tool in pre and postnatal diagnostics. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4801624 Sun, 08 May 2011 23:00:00 +0100 4801624 http://www.medworm.com/index.php?rid=4722983&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F11 The results section of the published article [1] state that the karyotype of the proband was defined as follows: 46,XY,ish der(22)t(15;22)(q11.2;q11.2)(TUPLE-,TBX-)mat.The above definition contains an error and should instead be written as follows: 46,XY.ish der(15)(15pter->15q11.2::22q11.2->22qter)t(15;22)(q11.2;q11.2)mat(TUPLE-,TBX1-).1. Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen and Sofia Kitsiou-Tzeli (2011) Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. Molecular Cytogenetics 4:6 (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4722983 Fri, 15 Apr 2011 23:00:00 +0100 4722983 http://www.medworm.com/index.php?rid=4692519&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F10 Conclusions: The crossover/chiasma frequency distribution in humans and mice with normal karyotypes as well as in carriers of structural chromosome rearrangements are those expected on the COM model. Further studies are underway to analyze mechanical/mathematical aspects of this model for the origin of crossover/chiasma interference, using string replicas of the homologous chromosomes at the Prophase stage of Meiosis I. The parameters to vary in this type of experiment will include: (1) the mitotic karyotype, i.e. ranked length and centromere index of the chromosomes involved, (2) the specific bivalent/multivalent length and flexibility, dependent on the way this structure is positioned within the nucleus and the size of the respective meiocyte nuclei, (3) the frequency characteristics of ... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4692519 Thu, 07 Apr 2011 23:00:00 +0100 4692519 http://www.medworm.com/index.php?rid=4669565&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F9 Conclusions: Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by using aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in the observed phenotype. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4669565 Fri, 01 Apr 2011 23:00:00 +0100 4669565 http://www.medworm.com/index.php?rid=4669566&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F8 The chromosomal translocation (11;14)(q13;q32) rearranging the locus for cyclin D1 (CCND1) to that of the immunoglobulin heavy chain (IGH) can be found in virtually all cases of mantle cell lymphoma (MCL), while other CCND1 translocations are extremely rare. As CCND1 overexpression and activation is a hallmark of MCL it is regarded as a central biological mechanism in the development and maintenance of this disease.Here we present a patient initially diagnosed with chronic lymphocytic leukemia (CLL) where chromosome banding analysis revealed, among other aberrations, a translocation (11;22)(q13;q11.2). We show by fluorescence in situ hybridization (FISH) analysis that on chromosome 22 the immunoglobulin light chain lambda (IGL) is involved in this cytogenetic aberration. Additionally, we d... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4669566 Thu, 31 Mar 2011 23:00:00 +0100 4669566 http://www.medworm.com/index.php?rid=4531484&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F7 Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, suggesting that it predisposes to the WS deletion. Frohnauer et al. recently reported that the frequency of this inversion is not elevated in the parents of children with WS in Germany relative to the German general population. We have compared Frohnauer et al.'s data to those from three previously published studies (Hobart et al., Bayes et al., Osborne et al.), all of which reported a significantly higher rate of 7q11.23 inversion in transmitting parents than in the general population. Results indicated that Frohnauer et al.'s data are consistent with previously reported frequencies of ... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4531484 Mon, 28 Feb 2011 00:00:00 +0100 4531484 http://www.medworm.com/index.php?rid=4511661&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F6 Background: Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far. Results: Here we report a 6-year-old boy presenting growth retardation, dysmorphic features and who exhibited learning difficulties. Fluorescence in situ hybridization (FISH) analysis of the proband revealed a deletion of DiGeorge Syndrome critical region (TUPLE). Array-CGH analysis revealed an interstitial duplication of 12 Mb in size i... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4511661 Wed, 23 Feb 2011 00:00:00 +0100 4511661 http://www.medworm.com/index.php?rid=4449742&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F5 Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay.Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7.Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral bloo... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4449742 Tue, 08 Feb 2011 00:00:00 +0100 4449742 http://www.medworm.com/index.php?rid=4432709&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F4 Conclusions: Our results illustrate the successful evaluation of CLL using a microarray optimized for the interrogation of inherited disorders and the identification of alterations with possible relevance to CLL susceptibility. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4432709 Thu, 03 Feb 2011 00:00:00 +0100 4432709 http://www.medworm.com/index.php?rid=4376993&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F3 Conclusions: Our data indicated that an integrated cytogenomic analysis will be a better diagnostic scheme to delineate genomic contents of chromosomal and cryptic abnormalities in patients with MDS and AML. An evidence-based approach to interpret somatic genomic findings was proposed. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4376993 Thu, 20 Jan 2011 00:00:00 +0100 4376993 http://www.medworm.com/index.php?rid=4349036&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F2 Conclusions: Although different techniques exist for identification of sSMC, we show that MLPA is a valuable adjunctive tool for rapidly distinguishing between unique-sequence positive and negative sSMC. In case of positive MLPA results, genetic microarray analysis or, if not available, targeted FISH can be applied for further identification and determination of the exact breakpoints, which is important for prediction of the fetal phenotype. In case of a negative MLPA result, which means that the sSMC most probably does not contain genes, the parents can already be reassured and parental karyotyping can be initiated to assess the heritability. In the mean time, FISH techniques are needed for determination of the chromosomal origin. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4349036 Fri, 14 Jan 2011 00:00:00 +0100 4349036 http://www.medworm.com/index.php?rid=4313516&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F4%2F1%2F1 Conclusion: The first description of a cytogenetically visible CNV /UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated. It is a cost efficient, up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected findings. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4313516 Wed, 05 Jan 2011 00:00:00 +0100 4313516 http://www.medworm.com/index.php?rid=4202717&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F24 Conclusions: The outcome of this study indicates the ability of array CGH to identify chromosomal abnormalities which cannot be detected during routine prenatal cytogenetic analysis, therefore increasing the overall detection rate. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4202717 Fri, 26 Nov 2010 00:00:00 +0100 4202717 http://www.medworm.com/index.php?rid=4167122&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F23 Background: Recent genome-wide microarray-based research investigations have revealed a high frequency of submicroscopic copy number alterations (CNAs) in the myelodysplastic syndromes (MDS), suggesting microarray-based comparative genomic hybridization (aCGH) has the potential to detect new clinically relevant genomic markers in a diagnostic laboratory. Results: We performed an exploratory study on 30 cases of MDS, myeloproliferative neoplasia (MPN) or evolving acute myeloid leukemia (AML) (% bone marrow blasts [less than or equal to]30%, range 0-30%, median, 8%) by aCGH, using a genome-wide bacterial artificial chromosome (BAC) microarray. The sample data were compared to corresponding cytogenetics, fluorescence in situ hybridization (FISH), and clinical-pathological findings. Previously... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4167122 Mon, 15 Nov 2010 00:00:00 +0100 4167122 http://www.medworm.com/index.php?rid=4149836&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F22 Conclusions: Genomic microarrays have within the recent years proven to be a highly useful tool in the investigation of unexplained MR. The cohorts reported so far agree on an around 11% diagnostic yield of clinically significant CNVs in patients with unexplained MR. Various publicly available databases have been created for the interpretation of identified CNVs and parents are analyzed in case a rare CNV is identified in the child. We have conducted a study of Greek patients with unexplained MR and confirmed the high diagnostic value of the previous studies. It is important that the technique becomes available also in less developed countries when the cost of consumables will be reduced. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4149836 Tue, 09 Nov 2010 00:00:00 +0100 4149836 http://www.medworm.com/index.php?rid=4138537&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F21 Conclusion: Our results do not support the hypothesis that the paracentric inversion polymorphism at 7q11.23 is a major predisposing factor for the WBS deletion. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4138537 Fri, 05 Nov 2010 00:00:00 +0100 4138537 http://www.medworm.com/index.php?rid=4081394&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F20 Mitotic cell death is an important form of cell death, especially in cancer. Chromosome fragmentation is a major form of mitotic cell death which is identifiable during common cytogenetic analysis by its unique phenotype of progressively degraded chromosomes. This morphology, however, can appear similar to the morphology of premature chromosome condensation (PCC) and thus, PCC has been at times confused with chromosome fragmentation. In this review, the phenomena of chromosome fragmentation and PCC are reviewed and their similarities and differences are discussed in order to facilitate differentiation of the similar morphologies. Furthermore, chromosome pulverization, which has been used almost synonymously with PCC, is re-examined. Interestingly, many past reports of chromosome pulverizat... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4081394 Mon, 18 Oct 2010 23:00:00 +0100 4081394 http://www.medworm.com/index.php?rid=4064608&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F19 Conclusions: Confirmation of aCGH-detected abnormalities and inheritance of these abnormalities are essential for accurate diagnosis and interpretation of aCGH results. The development of a new service utilising custom made MLPA probes and commercial MLPA kits for follow-up studies of array CGH results has been found to be efficient and flexible in our laboratory. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4064608 Tue, 12 Oct 2010 23:00:00 +0100 4064608 http://www.medworm.com/index.php?rid=4030360&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F18 Conclusion: Attempts for genotype-phenotype correlations for partial trisomy 9p might have been hampered by the fact that more complex, cryptic aberrations were neither considered nor detected in comparable clinical cases. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=4030360 Sun, 03 Oct 2010 23:00:00 +0100 4030360 http://www.medworm.com/index.php?rid=3968571&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F17 Comet assay and micronucleus (MN) test are widely applied in genotoxicity testing and biomonitoring. While comet assay permits to measure direct DNA-strand breaking capacity of a tested agent MN test allows estimating the induced amount of chromosome and/or genome mutations. The potential of these two methods can be enhanced by the combination with fluorescence in situ hybridization (FISH) techniques. FISH plus comet assay allows the recognition of targets of DNA damage and repairing directly. FISH combined with MN test is able to characterize the occurrence of different chromosomes in MN and to identify potential chromosomal targets of mutagenic substances. Thus, combination of FISH with the comet assay or MN test proved to be promising techniques for evaluation of the distribution of DNA... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3968571 Tue, 14 Sep 2010 23:00:00 +0100 3968571 http://www.medworm.com/index.php?rid=3924255&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F15 Conclusions: These data confirm that the intrachromosomal genomic amplification of BCR/ABL1 that occurs in some CML patients during disease progression also involves amplification of 9q34 gene-rich sequences downstream of ABL1 breakpoint. The variety of rearrangements identified in this relatively small cohort demonstrates that the Ph chromosome is not a stable structure but prone to further rearrangements during disease progression. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3924255 Tue, 31 Aug 2010 23:00:00 +0100 3924255 http://www.medworm.com/index.php?rid=3771593&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F14 Conclusions: : Despite the hemizygosity of FMR1 gene, the patient doesn't present Fragile X syndrome features, since the normal X-chromosome is not subject to methylation. The described deletion supports the hypothesis that haploinsufficiency of X-linked genes can be on the basis of POF, and special attention should be paid to X-linked genes in region Xq28 since they escape inactivation and might have a role in this disorder. A full clinical and cytogenetic characterization of all POF cases is important to highlight a pattern and help to understand which genes are crucial for normal ovarian development. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3771593 Mon, 19 Jul 2010 23:00:00 +0100 3771593 http://www.medworm.com/index.php?rid=3740137&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F13 Conclusions: We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3740137 Thu, 08 Jul 2010 23:00:00 +0100 3740137 http://www.medworm.com/index.php?rid=3710006&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F11 Conclusions: Although BAC arrays have faster turnaround times, the increased detection rate of oligo arrays makes them attractive for clinical cytogenetic testing. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3710006 Mon, 28 Jun 2010 23:00:00 +0100 3710006 http://www.medworm.com/index.php?rid=3607039&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F10 Conclusion: Haploinsufficiency of GLUT1 leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s) lying in 1q44 proximal to the SMYD3 gene. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3607039 Thu, 27 May 2010 23:00:00 +0100 3607039 http://www.medworm.com/index.php?rid=3471280&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F9 Conclusions: Array CGH can be used in a diagnostic service setting in place of G-banded chromosome analysis, providing a more comprehensive and objective test for patients with suspected genome imbalance. The increase in consumable costs can be minimised by employing appropriate hybridisation strategies; the use of robotics and a customised database application to process multiple samples reduces staffing costs and streamlines analysis, interpretation and reporting of results. Array CGH provides a substantially higher diagnostic yield than G-banded chromosome analysis, thereby alleviating the burden of further clinical investigations. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3471280 Wed, 14 Apr 2010 23:00:00 +0100 3471280 http://www.medworm.com/index.php?rid=3415581&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F8 Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular) cytogenetic characterization of UPD cases is essential. Up to now >1,100 UPD cases detected in clinical, non-tumor cases are reported in the literature. Recently, these cases were summarized in a regularly updated, freely available online database (http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm). Based of this, here the presently known imprinting syndromes, the chromosomal contribution to UPD phenomenon, and the cytogenetic subgroups of UPD, including cases with normal, abnormal balanced or unbalanced ka... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3415581 Sun, 28 Mar 2010 23:00:00 +0100 3415581 http://www.medworm.com/index.php?rid=3382236&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F7 Conclusion: Both direct (results of cytogenetic and molecular study of the origin of trisomic line) and indirect (advanced grandmaternal age on the side of GM carrier) evidences allow to assume that significant proportion of the mosaic parents had been conceived as trisomics. Female-specific trisomy rescue and genetic predisposition to postzygotic non-disjunction have been suggested as mechanisms of formation of both GM and somatic mosaicism. Typical male preponderance in affected non mosaic offspring with either maternally- or paternally transmitted trisomy 21, indicates than meiotic events are not responsible for the skewed sex ratio in DS. However a female excess among unaffected offspring of male carriers of GM might be the result of meiotic non homologous co-orientation of chromosomes... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3382236 Thu, 18 Mar 2010 00:00:00 +0100 3382236 http://www.medworm.com/index.php?rid=3342022&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F5 Conclusion: The discovery of a new so-called "chromatin disorder" is suggested. Clinical, molecular genetic and cytogenetic characteristics are reported and compared to other "chromatin disorders". (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3342022 Mon, 08 Mar 2010 00:00:00 +0100 3342022 http://www.medworm.com/index.php?rid=3250628&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F2 Conclusion: This study compares how an intrachromosomal insertion has behaved in the meiotic and preimplantation stages of development in sibling male and female carriers. It confirms that PGD is an appropriate treatment in such cases. Reasons for the differing outcome for the two carriers are discussed. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3250628 Mon, 08 Feb 2010 00:00:00 +0100 3250628 http://www.medworm.com/index.php?rid=3159440&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F3%2F1%2F1 Human karyotype is usually studied by classical cytogenetic (banding) techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase cytogenetics, which has become more or less applicable for specific biomedical ... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3159440 Mon, 11 Jan 2010 00:00:00 +0100 3159440 http://www.medworm.com/index.php?rid=3104518&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F27 Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter.Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cogniti... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3104518 Fri, 18 Dec 2009 00:00:00 +0100 3104518 http://www.medworm.com/index.php?rid=3070591&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F26 We report a 7.5 years old boy presenting with speech and developmental delay, hearing impairment and abnormal platelet function. High resolution SNP oligonucleotide microarray analysis revealed a terminal deletion of 11.4 Mb in size, in the area 11q24.1-11qter. This specific deletion encompasses around 170 genes. Other molecular techniques such as fluorescence in situ hybridization and multiplex ligation-dependent probe amplification were used to confirm the array-result.DiscussionOur results suggest that the identification and detailed analysis of similar patients with abnormal platelet function and otherwise mild clinical features will contribute to identification of more patients with 11q deletion and JBS. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3070591 Wed, 09 Dec 2009 00:00:00 +0100 3070591 http://www.medworm.com/index.php?rid=3026142&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F23 Genomic instability (GIN) and chromosome instability (CIN) are two counterpart ways to produce a variety of pathogenic conditions, i.e. cancer, neurodegeneration, chromosomal and genomic diseases. The GIN and CIN manifestation that possesses the most appreciable impact on cell physiology and viability is aneuploidy. The latter has been consistently shown to be associated with aging. Classically, it has been considered that a failure of mitotic machinery leads to aneuploidy acquiring throughout aging in dividing cells. Paradoxically, this model is inapplicable for the human brain, which is composed of post-mitotic cells persisting throughout the lifetime. To solve this paradox, we have focused on mosaic neural aneuploidy, a remarkable biomarker of GIN and CIN in the normal and diseased brai... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3026142 Wed, 25 Nov 2009 00:00:00 +0100 3026142 http://www.medworm.com/index.php?rid=2984392&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F22 Conclusion: More comprehensive characterization of such sSMCT might identify them to be more frequent than only ~0.6% in Turner syndrome cases according to available data. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2984392 Thu, 12 Nov 2009 00:00:00 +0100 2984392 http://www.medworm.com/index.php?rid=2871213&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F20 Conclusions: Our findings indicated that 12% of X chromosomes with the M1 haplotype, 43.5% of X chromosomes with the M2 haplotype, and 100% of the paternal X chromosome (with the P haplotype) were likely to be functionally active in the proband's cells, a finding indicating that disruption of X inactivation was associated to her severe phenotype. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2871213 Tue, 06 Oct 2009 23:00:00 +0100 2871213 http://www.medworm.com/index.php?rid=2670430&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F16 Conclusion: This is the thirteenth reported case of inversion-duplication 3q, being the first one described as an inv dup translocated onto a non-homologous chromosome. The mosaic terminal inv dup(3q) observed could be the result of three proposed alternative mechanisms. The most striking feature of this case is the autistic behavior of the proband, a characteristic not shared by any other patient with tetrasomy for 3q26.31->3qter. The present work further illustrates the advantages of the use of an integrative cytogenetic strategy, composed both by conventional and molecular techniques, on providing powerful information for an accurate diagnosis. This report also highlights a chromosome region potentially involved in autistic disorders. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2670430 Mon, 03 Aug 2009 23:00:00 +0100 2670430 http://www.medworm.com/index.php?rid=2597740&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F15 Conclusion: Application of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail. However, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2597740 Sun, 12 Jul 2009 23:00:00 +0100 2597740 http://www.medworm.com/index.php?rid=2555544&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F14 Conclusion: A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2555544 Mon, 29 Jun 2009 23:00:00 +0100 2555544 http://www.medworm.com/index.php?rid=2456075&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F13 The objective of this work is to obtain the correct relative DNA contents of chromosomes in the normal male and female human diploid genomes for the use at FISH analysis of radiation-induced chromosome aberrations. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2456075 Fri, 05 Jun 2009 04:00:00 +0100 2456075 http://www.medworm.com/index.php?rid=2446283&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F12 Conclusions: The definite origin and meaning of disease-marker negative residual cells is still unclear. Overall, with the presented automatic chimerism analysis of interphase FISH slides, a sensitive method for detection of disease-marker positive residual cells is on hand. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2446283 Fri, 29 May 2009 04:00:00 +0100 2446283 http://www.medworm.com/index.php?rid=2258267&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F10 Conclusions: This study illustrates that the qPCR/SYBR green technique represents a rapid and versatile method for the detection of subtelomeric imbalances and the option to map the breakpoint. Thus, this technique is highly suitable for genotype/phenotype studies in patients with MR/developmental delay and/or congenital defects. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2258267 Thu, 12 Mar 2009 04:00:00 +0100 2258267 http://www.medworm.com/index.php?rid=2201915&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F8 After publication of this work (Kitsiou-Tzeli S, Manolakos E, Lagou M, Kontodiou M, Kosyakova N, Ewers E, Weise A, Garas A, Orru S, Liehr T, Metaxotou A. Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. Mol Cytogenet 2009, 2:1), we noted that we inadvertently failed to include the complete list of all coauthors. The full list of all authors has now been added and the Authors' contributions and Competing interests section modified accordingly. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2201915 Fri, 20 Feb 2009 05:00:00 +0100 2201915 http://www.medworm.com/index.php?rid=2201916&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F7 Conclusions: Our results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL. Whether this chromosomal region contains gene(s) involved in hematopoietic malignant transformation remains to be determined. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2201916 Thu, 19 Feb 2009 05:00:00 +0100 2201916 http://www.medworm.com/index.php?rid=2191763&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F6 We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of ... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2191763 Tue, 17 Feb 2009 05:00:00 +0100 2191763 http://www.medworm.com/index.php?rid=2184338&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F5 Conclusions: The balanced translocation and MODY-like diabetes in the proband could be coincidental. Alternatively, the translocation may cause islet cell dysfunction by altering MPP7 expression in a subtle or tissue-specific fashion. The potential roles of MPP7 mutations in diabetes and perturbed islet cell polarity in insulin secretion warrant further study. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2184338 Fri, 13 Feb 2009 05:00:00 +0100 2184338 http://www.medworm.com/index.php?rid=2168573&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F3 Conclusion: The study of the preimplantation embryos in this case provided a rare and significant chance to study and understand the phenomena associated with this unusual type of anomaly during meiosis and in the earliest stages of development. It is the first reported PGD attempt for a ring chromosome abnormality. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2168573 Fri, 23 Jan 2009 05:00:00 +0100 2168573 http://www.medworm.com/index.php?rid=2126177&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F3 Conclusion: The study of the preimplantation embryos in this case provided a rare and significant chance to study and understand the phenomena associated with this unusual type of anomaly during meiosis and in the earliest stages of development. It is the first reported PGD attempt for a ring chromosome abnormality. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2126177 Fri, 23 Jan 2009 05:00:00 +0100 2126177 http://www.medworm.com/index.php?rid=2084658&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F2%2F1%2F1 Conclusion: We emphasize the importance of application of molecular cytogenetics in a prenatally diagnostic laboratory and description of more cases to enable a better genetic counseling and risk evaluation. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2084658 Wed, 07 Jan 2009 05:00:00 +0100 2084658 http://www.medworm.com/index.php?rid=2062465&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F27 Conclusion: This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2062465 Tue, 23 Dec 2008 05:00:00 +0100 2062465 http://www.medworm.com/index.php?rid=1992644&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F26 Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy). It has long been suggested that this phenomenon poorly contributes both to intercellular (interindividual) diversity and to human disease. However, our views have recently become to change due to a series of communications demonstrated a higher incidence of chromosomal mosaicism in diseased individuals (major psychiatric disorders and autoimmune diseases) as well as depicted chromosomal mosaicism contribution to genetic diversity, the central nervous system development, and aging. The later has been produced by significant achievements in the field of molecular cytogenetics. Recen... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1992644 Tue, 25 Nov 2008 05:00:00 +0100 1992644 http://www.medworm.com/index.php?rid=1985669&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F24 We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile). High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18)(q21.32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed co... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1985669 Tue, 11 Nov 2008 05:00:00 +0100 1985669 http://www.medworm.com/index.php?rid=1948135&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F23 Conclusions: Two individuals with ID who did not have the typical clinical features of Jacobsen syndrome were found to have deletions within the JBS region at 11q24-25. Their rearrangements facilitate the refinement of the JBS critical region and suggest that a) deletion of at least 3 of the 4 platelet function critical genes (ETS-1, FLI-1 and NFRKB and JAM3) is necessary for thrombocytopenia; b) one of the critical regions for heart abnormalities (conotruncal heart defects) may lie within 129.03 - 130.6 Mb; c) deletions of KCNJ1 and ADAMTS15 may contribute to the renal anomalies in Jacobsen Syndrome; d) the critical region for MRI abnormalities involves a region from 124.6 - 129.03 Mb. Our results reiterate the benefits of array-CGH for description of new phenotype/genotype associations a... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1948135 Tue, 11 Nov 2008 05:00:00 +0100 1948135 http://www.medworm.com/index.php?rid=1948134&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F24 We report a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent with dysmorphic auricles, he had a long philtrum and a gothic palate. His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile). High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells the one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18)(q21.32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discus... Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1948134 Tue, 11 Nov 2008 05:00:00 +0100 1948134 http://www.medworm.com/index.php?rid=1803380&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F21 Conclusions: We suggest that most normal female fetuses are trisomy 21 ovarian mosaics and the maternal age effect is caused by differential selection of these cells during foetal and postnatal development until ovulation. The exceptional occurrence of high-grade ovarian mosaicism may explain why some women have a child with Down syndrome already at young age as well as the associated increased incidence at subsequent conceptions. We also propose that our findings may explain the aberrant maternal recombination patterns previously found by family linkage analysis. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1803380 Thu, 18 Sep 2008 04:00:00 +0100 1803380 http://www.medworm.com/index.php?rid=1798911&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F19 Conclusion: In addition to the eight reported cases of analphoid inversion-duplication 3q supernumerary marker in the literature, this is yet another case of 3q sSMC with a new breakpoint at 3q25.33 and with varying phenotype as described in the case report. Identification of more and more similar cases of analphoid inversion-duplication 3q marker will help in establishing a better genotype-phenotype correlation. The study further demonstrates that aCGH in conjunction with routine cytogenetics and FISH is very useful in precisely identifying and characterizing a marker chromosome, and more importantly help in providing with an accurate genetic diagnosis and better counseling to the family. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1798911 Thu, 14 Aug 2008 04:00:00 +0100 1798911 http://www.medworm.com/index.php?rid=1694132&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F18 In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1694132 Sun, 10 Aug 2008 04:00:00 +0100 1694132 http://www.medworm.com/index.php?rid=1640549&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F15 Conclusions: This study investigated both de novo and familial apparently balanced translocations unlike other relatively large studies which are mainly focused on de novo cases. This study provides additional evidence that cryptic genomic imbalances are common in patients with abnormal phenotype and "apparently balanced" translocations not only in de novo but can also occur in familial cases. The use of microarrays with higher resolution such as oligo-arrays may reveal that the frequency of cryptic genomic imbalances among these patients is higher. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1640549 Mon, 21 Jul 2008 04:00:00 +0100 1640549 http://www.medworm.com/index.php?rid=1635697&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F14 Conclusions: BCR/ABL1 formation resulted from a direct insertion (one step mechanism) in 6 patients and CML-T1, while in 3 patients the fusion gene originated from a sequence of rearrangements (multiple steps). The presence of different rearrangements of both 9q34 and 22q11 regions highlights the genetic heterogeneity of this subgroup of CML. Future studies should be performed to confirm the presence of true breakpoint hot spots and assess their implications in Ph negative BCR/ABL1 positive CML. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1635697 Fri, 18 Jul 2008 04:00:00 +0100 1635697 http://www.medworm.com/index.php?rid=1556817&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F10 Conclusion: The data suggest that A-CGH detects unique and common abnormalities with certain exceptions such as tetraploidy and balanced translocation, which may lead to understanding progression of genetic changes as well as aid in early diagnosis and have an impact on therapy and prognosis. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1556817 Tue, 20 May 2008 04:00:00 +0100 1556817 http://www.medworm.com/index.php?rid=1556818&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F9 Conclusion: Studies in different tissue types may characterize more – potentially biologically relevant differences in nuclear architecture. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1556818 Tue, 29 Apr 2008 04:00:00 +0100 1556818 http://www.medworm.com/index.php?rid=1556819&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F8 Conclusion: Our report demonstrates that array CGH is especially suited to identify chromosome abnormalities with unclear or variable presentations. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1556819 Mon, 28 Apr 2008 04:00:00 +0100 1556819 http://www.medworm.com/index.php?rid=1556820&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F7 Conclusion: The increasing use of array CGH in clinical cytogenetic laboratories will provide an efficient method for more comprehensive characterization of SMCs. Improved SMC characterization, facilitated by array CGH, will allow for more accurate SMC/phenotype correlation. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1556820 Mon, 21 Apr 2008 04:00:00 +0100 1556820 http://www.medworm.com/index.php?rid=1556821&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F6 Conclusion: More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1556821 Tue, 15 Apr 2008 04:00:00 +0100 1556821 http://www.medworm.com/index.php?rid=1556822&cid=s_37182_67_f&fid=37182&url=http%3A%2F%2Fwww.molecularcytogenetics.org%2Fcontent%2F1%2F1%2F4 Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted to be derived from chromosome 16. In fact, the presence of euchromatin material from the long arm (16q) in the sSMC was demonstrated, and the karyotype can be written as mos 47, XY,+min(16)(:p11.1->q12.1:)[20]/46, XY [10]. (Source: Molecular Cytogenetics) Molecular Cytogenetics journals http://www.medworm.com/rss/comments.php?id=1556822 Wed, 02 Apr 2008 04:00:00 +0100 1556822