A de novo proximal 6q deletion confirmed by array comparative genomic hybridization.
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824?99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature.
Woo
Kwang-Sook
KS
Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
Kim
Ji-Eun
JE
Kim
Kyung-Eun
KE
Kim
Myo-Jing
MJ
Yoo
Jae-Ho
JH
Ahn
Hyun-Sook
HS
Shaffer
Lisa G
LG
Han
Jin-Yeong
JY
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis