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屈曲指、腭裂和马蹄内翻足(戈登综合征)。一个大家族的报告。

Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.

作者信息

Halal F, Fraser F C

出版信息

J Med Genet. 1979 Apr;16(2):149-50. doi: 10.1136/jmg.16.2.149.

Abstract

A second family is described in which camptodactyly, club foot, and cleft palate (the Gordon syndrome) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity. Penetrance appears to be more reduced in females than in males, and cleft palate is the least frequently manifested trait.

摘要

描述了另一个家族,其中屈曲指、马蹄内翻足和腭裂(戈登综合征)以一种与常染色体显性遗传一致的模式传递,其外显率降低且表现度可变。女性的外显率似乎比男性降低得更多,腭裂是最不常表现出的性状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1bae/1012741/ef2eb38767bd/jmedgene00291-0067-a.jpg

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