10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

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...

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Bibliographic Details
Published in:	Cytogenetic and genome research Vol. 124; no. 1; p. 102
Main Authors:	Liehr, T, Stumm, M, Wegner, R D, Bhatt, S, Hickmann, P, Patsalis, P C, Meins, M, Morlot, S, Klaschka, V, Ewers, E, Hinreiner, S, Mrasek, K, Kosyakova, N, Cai, W W, Cheung, S W, Weise, A
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2009
Subjects:	Amniocentesis Chromosome Aberrations Chromosome Banding Chromosome Breakage Chromosomes, Human, Pair 10 Comparative Genomic Hybridization Female Gene Dosage Gene Duplication Genetic Markers Humans In Situ Hybridization, Fluorescence Karyotyping Male Microdissection Oligonucleotide Array Sequence Analysis Phenotype Physical Chromosome Mapping Prenatal Diagnosis
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Summary:	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.
ISSN:	1424-859X
DOI:	10.1159/000200094