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中央粉末状(科波克)白内障。一个由两名阿拉伯女性组成的同胞关系,其父母为近亲且表型正常。

Central pulverulent (Coppock) cataracts. A sibship of two Arab females with full-cousin normal parents.

作者信息

Hegab S, Sheriff S M, al-Awadi S, Naguib K K, Teebi A, Phillips C I

机构信息

Eye Department, Ibn Sina Hospital, Kuwait.

出版信息

Ophthalmic Paediatr Genet. 1991 Jun;12(2):111-4. doi: 10.3109/13816819109023683.

Abstract

Two Arab (Saudi) sisters are described each with bilateral typical central pulverulent (powdery) or Coppock cataracts. As their unaffected parents are first cousins, the heredity is probably autosomal recessive, unlike the autosomal dominant heredity of the vast majority of previously described cases in the literature. Chromosomes were normal in all four individuals. There are no other children in the family. Both children and both parents were phenotypically Fy a - b+, reasonably common in Arab populations, so that any linkage to the Duffy blood group is neither supported nor refuted.

摘要

本文描述了两名阿拉伯(沙特)姐妹,她们均患有双侧典型的中央粉末状或科波克白内障。由于她们未患病的父母是近亲,其遗传方式可能为常染色体隐性遗传,这与文献中此前描述的绝大多数病例的常染色体显性遗传不同。所有四人的染色体均正常。家中没有其他子女。两个孩子及其父母的血型表型均为Fy a - b +,这在阿拉伯人群中较为常见,因此无法确定其与达菲血型系统是否存在关联。

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