The Korean Journal of Laboratory Medicine  2010;30(1):84-88

doi:10.3343/kjlm.2010.30.1.84

A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization.

Kwang Sook WOO 1 ; Ji Eun KIM ; Kyung Eun KIM ; Myo Jing KIM ; Jae Ho YOO ; Hyun Sook AHN ; Lisa G SHAFFER ; Jin Yeong HAN

Affiliations

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Keywords

Comparative Genomic Hybridization; Chromosomes; Human; Pair 6; Chromosome Deletion

Country

Republic of Korea

Language

English

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.