Naguib K K, Teebi A S, Al-Awadi S A, Marafie M J
Kuwait Medical Genetics Centre, Maternity Hospital.
J Med Genet. 1987 Oct;24(10):627-9. doi: 10.1136/jmg.24.10.627.
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.
我们报告了一个阿拉伯家庭，其父母为表亲，表型正常，但育有两个患有布-德二氏综合征（Brachmann-de Lange syndrome）不同表现的后代。先证者有该综合征的许多诊断症状，但染色体明显正常，在三个月大时死亡。他的妹妹受影响较轻，活到了六岁。本文讨论了布-德二氏综合征的遗传基础，并提出在某些情况下，常染色体隐性等位基因纯合性是其潜在病因。
