正常父母的两个兄弟姐妹患布-德二氏综合征。
The Brachmann-de Lange syndrome in two siblings of normal parents.
作者信息
Fryns J P, Dereymaeker A M, Hoefnagels M, D'Hondt F, Mertens G, van den Berghe H
出版信息
Clin Genet. 1987 Jun;31(6):413-5. doi: 10.1111/j.1399-0004.1987.tb02835.x.
Abstract
In this report we describe two male siblings with typical Brachmann-de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.
摘要
在本报告中，我们描述了两名患有典型布-德综合征的男性同胞。两人均表现出这种中脑导水管周围综合征的严重形式，分别于3个月零3周龄时死亡。家族史完全阴性，父母正常，前中期染色体研究未能揭示这种独特畸形综合征的染色体基础。
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