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A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - November 12, 2009 Category: Molecular Biology Authors: Frenny ShethElisabeth EwersNadezda KosyakovaAnja WeiseJayesh ShethManisha DesaiJoris AndrieuxJoris VermeeschAhmed HamidMonika ZieglerThomas Liehr Source Type: journals

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - October 6, 2009 Category: Molecular Biology Authors: Lucia MoraesLeila CardosoVera MouraMiguel MoreiraAlbert MenezesJuan LlerenaHector Seuanez Source Type: journals

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31->qter) detected in an autistic boyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 f...
Source: Molecular Cytogenetics - August 3, 2009 Category: Molecular Biology Authors: Isabel CarreiraJoana MeloCarlos RodriguesLiesbeth BackxJoris VermeeschAnja WeiseNadezda KosyakovaGuiomar OliveiraEunice Matoso Source Type: journals

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - July 12, 2009 Category: Molecular Biology Authors: Paula de VreeMarleen SimonMarieke van DoorenGerda StoevelaarJose HilkmannMichel RongenGido HuijbregtsAnnemieke VerkerkPino Poddighe Source Type: journals

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - June 29, 2009 Category: Molecular Biology Authors: Dilek AktasAnja WeiseEda UtineDursun AlehanKristin MrasekFerdinand von EggelingHeike ThiemeErgul TuncbilekThomas Liehr Source Type: journals

"New sequence-based data on the relative DNA contents of chromosomes in the normal male and female human diploid genomes for radiation molecular cytogenetics"Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - June 5, 2009 Category: Molecular Biology Authors: Mikhail RepinPavel GolubevLudmila Repina Source Type: journals

Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cellsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - May 29, 2009 Category: Molecular Biology Authors: Jorn ErleckeIsabell HartmannMartin HoffmannTorsten KrollHeike StarkeAnita HellerAlexander GloriaHerbert SayerTilman JohannesUwe ClaussenThomas LiehrIvan Loncarevic Source Type: journals

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - March 12, 2009 Category: Molecular Biology Authors: Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind, Detlef Boehm, Thomas Liehr, Knut Brockmann, Ekkehard Willichowski, Loukas Argyriou and Iris Bartels Source Type: journals

Correction: Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal maleEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - February 20, 2009 Category: Molecular Biology Authors: Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Katerina Anagnostopoulou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr and Aikaterini Metaxotou Source Type: journals

Unbalanced chromosome 1 abnormalities in four infants with Down syndrome and acute megakaryocytic leukemiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - February 19, 2009 Category: Molecular Biology Authors: Maria Luiza Macedo Silva, Maria do Socorro Pombo-de-Oliveira, Susana C. Raimondi, Hasmik Mkrtchyan, Eliana Abdelhay, Amanda Faria de Figueiredo, Mariana Tavares de Souza, Daniela Ribeiro Ney Garcia, Eliane Maria Soares de Ventura, Adriana Martins de Sousa Source Type: journals

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Molecular Cytogenetics - February 17, 2009 Category: Molecular Biology Authors: Gitte J Almind, Karen Brondum-Nielsen, Regitze Bangsgaard, Peter Baekgaard and Karen Gronskov Source Type: journals

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - February 13, 2009 Category: Molecular Biology Authors: Elizabeth J Bhoj, Stefano Romeo, Marco G Baroni, Guy Bartov, Roger A Schultz and Andrew R Zinn Source Type: journals

Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrierEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - January 23, 2009 Category: Molecular Biology Authors: Anna Mantzouratou, Anastasia Mania, Marianna Apergi, Sarah Laver, Paul Serhal and JDA Delhanty Source Type: journals

Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - January 23, 2009 Category: Molecular Biology Authors: Anna Mantzouratou, Anastasia Mania, Marianna Apergi, Sarah Laver, Paul Serhal and J DA Delhanty Source Type: journals

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal maleEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - January 7, 2009 Category: Molecular Biology Authors: Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr and Aikaterini Metaxotou Source Type: journals

De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array -CGHEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - December 23, 2008 Category: Molecular Biology Authors: Serdar Kasakyan, Laurence Lohmann, Azeddine Aboura, Mazin Quimsiyeh, Yves Menezo, Gerard Tachdjian and Moncef Benkhalifa Source Type: journals

Chromosomal mosaicism goes globalEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 g...
Source: Molecular Cytogenetics - November 25, 2008 Category: Molecular Biology Authors: Ivan Y Iourov, Svetlana G Vorsanova and Yuri B Yurov Source Type: journals

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 confi...
Source: Molecular Cytogenetics - November 11, 2008 Category: Molecular Biology Authors: Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr and Michael B Petersen Source Type: journals

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGHEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 regio...
Source: Molecular Cytogenetics - November 11, 2008 Category: Molecular Biology Authors: Christine Tyson, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Barbara McGillivray, Sandra A Farrell, Laura Arbour, Albert E Chudley, Lorne Clarke, William Gibson, Sarah Dyack, Ross McLeod, Teresa Costa, Margot I VanAllen, Siu-li Yong, G Source Type: journals

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGHEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Molecular Cytogenetics - November 11, 2008 Category: Molecular Biology Authors: Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr and Michael Petersen Source Type: journals

On the origin of trisomy 21 Down syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - September 18, 2008 Category: Molecular Biology Authors: Maj A Hulten, Suketu D Patel, Maira Tankimanova, Magnus Westgren, Nikos Papadogiannakis, Anna MARIA Jonsson and Erik Iwarsson Source Type: journals

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 wit...
Source: Molecular Cytogenetics - August 14, 2008 Category: Molecular Biology Authors: Sabita K Murthy, Ashok K Malhotra, Preenu S Jacob, Sehba Naveed, Eman EM Al-Rowaished, Sara Mani, Shabeer Padariyakam, R Pramathan, Ravi Nath, Mahmoud Taleb Al-Ali and Lihadh Al-Gazali Source Type: journals

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two casesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - August 10, 2008 Category: Molecular Biology Authors: Ashutosh Halder, Manish Jain, Madhulika Kabra and Neerja Gupta Source Type: journals

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotypeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - July 21, 2008 Category: Molecular Biology Authors: Carolina Sismani, Sofia Kitsiou-Tzeli, Marios Ioannides, Christodoulos Christodoulou, Violetta Anastasiadou, Goula Stylianidou, Eleftheria Papadopoulou, Emanuel Kanavakis, Zoe Kosmaidou-Aravidou and Philippos C Patsalis Source Type: journals

FISH mapping of Philadelphia negative BCR/ABL1 positive CMLEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - July 18, 2008 Category: Molecular Biology Authors: Anna Virgili, Diana Brazma, Alistar G Reid, Julie Howard-Reeves, Mikel Valganon, Anastasios Chanalaris, Valeria AS De Melo, David Marin, Jane F Apperley, Colin Grace and Ellie P Nacheva Source Type: journals

Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridizationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - May 20, 2008 Category: Molecular Biology Authors: Donatella Caserta, Moncef Benkhalifa, Marina Baldi, Francesco Fiorentino, Mazin Qumsiyeh and Massimo Moscarini Source Type: journals

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbonEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Studies in different tissue types may characterize more – potentially biologically relevant differences in nuclear architecture. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 29, 2008 Category: Molecular Biology Authors: Marina Manvelyan, Friederike Hunstig, Kristin Mrasek, Samarth Bhatt, Franck Pellestor, Anja Weise and Thomas Liehr Source Type: journals

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our report demonstrates that array CGH is especially suited to identify chromosome abnormalities with unclear or variable presentations. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 28, 2008 Category: Molecular Biology Authors: Blake C Ballif, Aaron Theisen, Justine Coppinger, Gordon C Gowans, Joseph H Hersh, Suneeta Madan-Khetarpal, Karen R Schmidt, Raymond Tervo, Luis F Escobar, Christopher A Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E Ming, Elaine H Zackai, Bassem Source Type: journals

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridizationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - April 21, 2008 Category: Molecular Biology Authors: Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, Anne V Hing, Ian A Glass, Michael L Raff, Thomas Norwood and Beth A Torchia Source Type: journals

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - April 15, 2008 Category: Molecular Biology Authors: Vladimir Trifonov, Simon Fluri, Franz Binkert, Adayapalam Nandini, Jasen Anderson, Laura Rodriguez, Madeleine Gross, Nadezda Kosyakova, Hasmik Mkrtchyan, Elisabeth Ewers, Daniela Reich, Anja Weise and Thomas Liehr Source Type: journals

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy manEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Molecular Cytogenetics - April 2, 2008 Category: Molecular Biology Authors: Laura Rodríguez, Tomas Liehr, María Luisa Martínez-Fernández, Ana Lara, Antonio Torres and María Luisa Martínez-Frías Source Type: journals