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KMID : 0981820100300010084
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Korean Journal of Laboratory Medicine
2010 Volume.30 No. 1 p.84 ~ p.88
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A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
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Woo Kwang-Sook
Han Jin-Yeong
Yoo Jae-Ho
Kim Myo-Jing
Kim Kyung-Eun
Kim Ji-Eun
Ahn Hyun-Sook
Lisa G. Shaffer
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Abstract
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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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KEYWORD
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Comparative Genomic Hybridization, Chromosomes, Human, Pair 6, Chromosome Deletion
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