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Korean J Lab Med. 2010 Feb;30(1):84-88. English. Case Report. https://doi.org/10.3343/kjlm.2010.30.1.84
Woo KS , Kim JE , Kim KE , Kim MJ , Yoo JH , Ahn HS , Shaffer LG , Han JY .
Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.
Department of Obstetrics & Gynecology, Dong-A University College of Medicine, Busan, Korea.
Signature Genomic Laboratories4, Spokane, WA, USA.
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.

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