2q部分三体
Partial trisomy 2q.
作者信息
Schumacher R E, Rocchini A P, Wilson G N
出版信息
Clin Genet. 1983 Mar;23(3):191-4. doi: 10.1111/j.1399-0004.1983.tb01871.x.
Abstract
An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.
摘要
一名患有特殊面容以及脑、心脏和肾脏异常的婴儿被发现其2号染色体长臂远端存在简单重复。该病例的临床特征细化了2q部分三体的表型谱；之前的病例有更复杂的染色体重排。
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