5号染色体短臂三体：一例患有inv dup(5)(p13.1----p15.3)的畸形新生儿的尸检数据。
Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3).
作者信息
Kleczkowska A, Fryns J P, Moerman P, Vandenberghe K, Van den Berghe H
出版信息
Clin Genet. 1987 Jul;32(1):49-56. doi: 10.1111/j.1399-0004.1987.tb03323.x.
Abstract
In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1----p15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.
摘要
在本文中，我们报告了一名因新发倒位5p重复即inv dup(5)(p13.1----p15.3)导致5p三体的畸形男婴的详细尸检数据，并将这些数据与先前关于5p三体的报告结果进行了比较。脑畸形，即胼胝体发育不全和丹迪-沃克囊肿畸形，似乎是这种部分常染色体重复综合征的另一个特征性表现。
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