1号染色体长臂远端缺失（q43→qter），与严重智力发育迟缓及一种非特异性畸形综合征相关。
Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.
作者信息
Ioan D M, Maximilian C, Kleczkowska A, Fryns J P
机构信息
Department of Clinical Genetics, Institute of Endocrinology, C.I. Parhon Bucarest, Roumania.
出版信息
Ann Genet. 1992;35(3):167-9.
PMID:1466567
Abstract
A 6 8/12-year-old girl with severe mental retardation, multiple congenital malformations and a de novo distal deletion of the long arm of chromosome 1 [del 1 (q43-->qter)] is here described. A review of the reported patients does not allow to distinguish different phenotypes related to distal deletion 1q42 and/or 1q43.
摘要
本文描述了一名6又8/12岁的女孩，她患有严重智力发育迟缓、多种先天性畸形，并且存在1号染色体长臂的新发末端缺失[del 1(q43→qter)]。对已报道病例的回顾无法区分与1q42和/或1q43末端缺失相关的不同表型。
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