一名患有环状7号染色体患者的7q36.3亚带缺失：与前脑无裂畸形的关联。
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly.
作者信息
Sawyer J R, Lukacs J L, Hassed S J, Arnold G L, Mitchell H F, Muenke M
机构信息
Department of Pathology, University of Arkansas of Medical Sciences, Arkansas Children's Hospital, Little Rock, USA.
出版信息
Am J Med Genet. 1996 Oct 16;65(2):113-6. doi: 10.1002/(SICI)1096-8628(19961016)65:2<113::AID-AJMG6>3.0.CO;2-T.
Abstract
We report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).
摘要
我们报告了一名患有环状染色体7的患者，通过高分辨率中期G显带和荧光原位杂交（FISH）分析，发现了与全前脑畸形（HPE）临床表现相关的7q36.3亚带缺失。
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