2号染色体短臂部分重复（dup(2)(p13----p21)）与智力发育迟缓及类阿斯克格综合征表型相关。
Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.
作者信息
Fryns J P, Kleczkowska A, Kenis H, Decock P, Van den Berghe H
机构信息
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
出版信息
Ann Genet. 1989;32(3):174-6.
PMID:2573314
Abstract
In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome.
摘要
在本报告中，我们描述了一名3岁男孩，因新发串联重复2(dup(2)(p13----p21))导致2号染色体短臂部分三体。除严重生长发育迟缓及中度精神运动发育迟缓外，他还表现出与临床诊断Aarskog综合征相符的畸形综合征。
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