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 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.
Liehr
T
T
Institut für Humangenetik und Anthropologie, Jena, Germany. i8lith@mti.uni-jena.de
Stumm
M
M
Wegner
R D
RD
Bhatt
S
S
Hickmann
P
P
Patsalis
P C
PC
Meins
M
M
Morlot
S
S
Klaschka
V
V
Ewers
E
E
Hinreiner
S
S
Mrasek
K
K
Kosyakova
N
N
Cai
W W
WW
Cheung
S W
SW
Weise
A
A
D000649:Amniocentesis; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D019457:Chromosome Breakage; D002879:Chromosomes, Human, Pair 10; D055028:Comparative Genomic Hybridization; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D042282:Microdissection; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020161:Physical Chromosome Mapping; D011296:Prenatal Diagnosis
D005819:Genetic Markers