BRACHMANN-DELANGE SYNDROME IN SIBS
BRACHMANN-DELANGE SYNDROME IN SIBS
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DOI：
10.1136/jmg.24.10.627
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发表时间：
1987-10-01
影响因子：
4
通讯作者：
MARAFIE, MJ
中科院分区：
文献类型：
--
作者：
NAGUIB, KK;TEEBI, AS;MARAFIE, MJ
我们报告了一个阿拉伯家庭的表型正常的堂兄弟父母与两个后代表现出不同的表现Brachmann-de Lange综合征。先证者，谁有许多诊断症状的综合征与明显正常的染色体，死亡的年龄为三个月。他的妹妹受影响不太严重，活了六年。Brachmann-de Lange综合征的遗传基础进行了讨论，常染色体隐性等位基因的纯合性在某些情况下被认为是一个潜在的原因。
We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations of Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms of the syndrome with apparently normal chromosomes, died at the age of three months. His sister was less severely affected and lived for six years. The genetic basis of Brachmann-de Lange syndrome is discussed and homozygosity for an autosomal recessive allelle is suggested as an underlying cause in some cases.