2q35-2q末端的新发倒位重复，无生长发育迟缓。
de novo inversion-duplication of 2q35-2qter without growth retardation.
作者信息
Dahoun-Hadorn S, Bretton-Chappuis B
机构信息
Département de Génétique et Microbiologie, CMU, Genève, Switzerland.
出版信息
Ann Genet. 1992;35(1):55-7.
PMID:1610122
Abstract
A 7-year-old mentally retarded child was found to be the carrier of a de novo inversion-duplication of 2q35-2qter. His phenotype corresponded to that which is classically described in cases of partial trisomy of the long arm of chromosome 2; however, he did not show the growth retardation which usually characterizes this and other aneuploidy syndromes.
摘要
一名7岁的智力发育迟缓儿童被发现是2q35-2qter新发倒位-重复的携带者。他的表型与经典描述的2号染色体长臂部分三体病例相符；然而，他并未表现出通常在这种及其他非整倍体综合征中出现的生长发育迟缓。
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