9号染色体短臂2区联合缺失和3号染色体短臂2区重复的轻度表型异常。
Mild phenotypic abnormalities in combined del 9p2 and dup 3p2.
作者信息
Game K, Friedman J M, Kalousek D K
机构信息
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
出版信息
Am J Med Genet. 1990 Mar;35(3):370-2. doi: 10.1002/ajmg.1320350311.
PMID:2309784
Abstract
Clinically recognizable syndromes have been reported in association with both del 9p2 and dup 3p2. We report on a girl with combined del 9p2 and dup 3p2 with manifestations of both syndromes but who is less severely affected than one would expect.
摘要
临床上已报道了与9p2缺失和3p2重复相关的可识别综合征。我们报告了一名患有9p2缺失和3p2重复合并症的女孩，她同时具有两种综合征的表现，但病情比预期的要轻。
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