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沙特阿拉伯一个也门家庭中的塞克尔综合征。

Seckel syndrome in a Yemeni family in Saudi Arabia.

作者信息

Krishna A G, Scrimgeour E M, Zawawi T H

机构信息

Department of Medicine, National Guard King Khalid Hospital, Jeddah, Saudi Arabia.

出版信息

Am J Med Genet. 1994 Jul 1;51(3):224-7. doi: 10.1002/ajmg.1320510310.

Abstract

We studied a 28-year-old Yemeni woman with typical Seckel syndrome. Two deceased sibs, a twin sister and a brother, had also been affected. The father of these individuals was married to his cousin's daughter: the pedigree suggests autosomal recessive inheritance. Classical Seckel syndrome has not been reported previously in Arabs, and this appears to be the first report from the Middle East.

摘要

我们研究了一名患有典型塞克尔综合征的28岁也门女性。她的两个已故同胞,一个双胞胎姐姐和一个哥哥,也患有此病。这些患者的父亲与其表妹的女儿结婚:该谱系提示为常染色体隐性遗传。此前阿拉伯人中尚未报道过典型的塞克尔综合征,这似乎是中东地区的首例报告。

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