10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences
| Autor: | Elisabeth Ewers, Samarth Bhatt, P. Hickmann, Nadezda Kosyakova, S.W. Cheung, Susanne Morlot, Vivien Klaschka, Anja Weise, Thomas Liehr, Rolf-Dieter Wegner, M. Meins, Sophie Hinreiner, Philippos C. Patsalis, Kristin Mrasek, Wei-Wen Cai, Markus Stumm |
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| Rok vydání: | 2009 |
| Předmět: |
Genetic Markers
Male medicine.medical_specialty Chromosome engineering G banding Gene Dosage Biology Gene Duplication Prenatal Diagnosis Genetics medicine Humans Molecular Biology In Situ Hybridization Fluorescence Genetics (clinical) Oligonucleotide Array Sequence Analysis Chromosome Aberrations Comparative Genomic Hybridization Autosome Chromosomes Human Pair 10 Cytogenetics Chromosome Breakage Karyotype Physical Chromosome Mapping Chromosome Banding Phenotype Karyotyping Chromosomal region Amniocentesis Female Chromosome breakage Microdissection Comparative genomic hybridization |
| Zdroj: | Cytogenetic and Genome Research. 124:102-105 |
| ISSN: | 1424-859X 1424-8581 |
| Popis: | Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences. |
| Databáze: | OpenAIRE |
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