title: A de novo proximal 6q deletion confirmed by array comparative genomic hybridization.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
authors.forename: Kwang-Sook
authors.initials: KS
authors.lastname: Woo
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Kim
authors.forename: Kyung-Eun
authors.initials: KE
authors.lastname: Kim
authors.forename: Myo-Jing
authors.initials: MJ
authors.lastname: Kim
authors.forename: Jae-Ho
authors.initials: JH
authors.lastname: Yoo
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Ahn
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: Jin-Yeong
authors.initials: JY
authors.lastname: Han
mesh_terms: 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