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. Fri, 19 Mar 2010 17:24:22 +0100 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