Articles

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

Small supernumerary marker chromosomes (sSMC) and B-chromosomes represent a heterogeneous collection of chromosomes added to the typical karyotype, and which are both small in size. They may consist of heteroc...

Authors: Thomas Liehr, Kristin Mrasek, Nadezda Kosyakova, Caroline Mackie Ogilvie, Joris Vermeesch, Vladimir Trifonov and Nikolai Rubtsov

Chromosomal assignment of canine THADA gene to CFA 10q25

Chromosomal translocations affecting the chromosome 2p21 cluster in a 450 kb breakpoint region are frequently observed in human benign thyroid adenomas. THADA (thyroid adenoma associated) was identified as the af...

Authors: Jan T Soller, Claudia Beuing, Hugo Murua Escobar, Susanne Winkler, Nicola Reimann-Berg, Norbert Drieschner, Gaudenz Dolf, Claude Schelling, Ingo Nolte and Jörn Bullerdiek

Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

Routine cytogenetic investigations for ovarian cancers are limited by culture failure and poor growth of cancer cells compared to normal cells. Fluorescence in situ Hybridization (FISH) application or classical c...

Authors: Donatella Caserta, Moncef Benkhalifa, Marina Baldi, Francesco Fiorentino, Mazin Qumsiyeh and Massimo Moscarini

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon

Even though comparative nuclear architecture studies in hominoids are sparse, nuclear chromosome architecture was shown to be conserved during hominoid evolution. Thus, it is suspected that yet unknown biologi...

Authors: Marina Manvelyan, Friederike Hunstig, Kristin Mrasek, Samarth Bhatt, Franck Pellestor, Anja Weise and Thomas Liehr

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. G...

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 A Bejjani and Lisa G Shaffer

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

Supernumerary marker chromosomes (SMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a...

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

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10⁶ human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal o...

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

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

Fragile X syndrome (OMIM #300624) is the most common, recognised, heritable cause of mental retardation. Widespread testing is warranted by the relatively high frequency of the disorder, the benefits of early ...

Authors: Mahmoud S Khaniani, Paul Kalitsis, Trent Burgess and Howard R Slater

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

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 (FIS...

Authors: Laura Rodríguez, Tomas Liehr, María Luisa Martínez-Fernández, Ana Lara, Antonio Torres and María Luisa Martínez-Frías

Direct fluorescent labelling of clones by DOP PCR

Array Comparative Genomic Hybridisation (array CGH) is a powerful technique for the analysis of constitutional chromosomal anomalies. Chromosomal duplications or deletions detected by array CGH need subsequent...

Authors: Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch and Joris R Vermeesch

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtel...

Authors: Joo Wook Ahn, Kathy Mann, Zoe Docherty and Caroline Mackie Ogilvie

A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics

Authors: Yuri B Yurov, Thomas Liehr, Lisa G Shaffer, Ivan Y Iourov and Svetlana G Vorsanova