新发16号染色体长臂11区至短臂末端三体
'De novo' trisomy 16q11 to pter.
作者信息
Dallapiccola B, Curatolo P, Balestrazzi P
出版信息
Hum Genet. 1979 May 23;49(1):1-6.
PMID:468236
Abstract
A de novo 16q- trisomy was found in a patient with severe mental retardation and mild physical abnormalities. A preliminary delineation the clinical features characteristic of trisomy 16q- is proposed, based upon comparison of the two cases identified so far. The mild phenotypical effects of this chromosome imbalance suggest that the alleged lethality of partial chromosome 16 aneuploidies should be reconsidered.
摘要
在一名患有严重智力发育迟缓及轻度身体异常的患者中发现了新发的16号染色体长臂缺失三体。基于对目前已确诊的两例病例的比较，初步描述了16号染色体长臂缺失三体的临床特征。这种染色体失衡所产生的轻微表型效应表明，所谓的部分16号染色体非整倍体致死性应重新审视。
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