[Genetic analysis of a supernumerary derivative chromosome 15].
OBJECTIVE
To detect and analyze a supernumerary derivative chromosome 15 with combined cytogenetic and molecular techniques, and to discuss the correlation between genomic copy number variations (CNVs) and clinical phenotypes.


METHODS
G-banded chromosome analysis and multiplex ligation-dependent probe amplification (MLPA) were carried out. The whole genome of the patient was also analyzed with array-comparative genome hybridization(array-CGH).


RESULTS
G-banding analysis indicated that the patient has a karyotype of 47, XY, + mar, with the supernumerary chromsome derived from 15q11-13 region spanning 9.8 Mb from locus 20477397 to 30298155.


CONCLUSIONS
CNVs of 15q11-13 are associated with mental retardation, language development delay and autistic disorder. Conventional cytogenetic analysis with array-CGH may provide a platform for accurate detection of chromosomal aberrations, which can faciliate the study of genome rearrangement underlying various diseases.
Institute of Clinical Genetics, Bayi Children's Hospital, the General Hospital of Beijing Military Region, P. R. China.
Fang
F
Wang
Yao
Y
Yang
Chun-zhi
CZ
Wang
X-iyu
XI
He
D025063:Chromosome Disorders / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D020732:Cytogenetic Analysis / Q000379:methods; D056915:DNA Copy Number Variations; D006801:Humans; D008297:Male; D010641:Phenotype