8号染色体长臂远端倒位重复：边缘智力与离散性畸形综合征
Inverted distal duplication of the long arm of chromosome 8: borderline intelligence and discrete dysmorphic syndrome.
作者信息
Kleczkowska A, Fryns J P, Decock P, Van den Berghe H
机构信息
Center for Human Genetics, University of Leuven, Belgium.
出版信息
Genet Couns. 1991;2(2):109-13.
PMID:1781954
Abstract
In this report, we describe an 11-years-old girl with inverted duplication in the distal part of the long arm of chromosome 8 (inv dup(8)(q24.11----q24.3). The most remarkable finding is her borderline intelligence and her nearly normal phenotype.
摘要
在本报告中，我们描述了一名11岁女孩，其8号染色体长臂远端存在反向重复（inv dup(8)(q24.11----q24.3)）。最显著的发现是她处于临界智力水平且表型近乎正常。
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