Phenotypic variation in the popliteal pterygium syndrome
Phenotypic variation in the popliteal pterygium syndrome
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DOI：
10.1111/j.1399-0004.1973.tb01146.x
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发表时间：
1973-05
影响因子：
3.5
通讯作者：
D. Bixler;C. Poland;W. Nance
中科院分区：
文献类型：
--
作者：
D. Bixler;C. Poland;W. Nance
文献中至少报告了47例腘翼状胬肉综合征。其中，27个受影响的个体是发生在10个家庭中的多重病例，而20个是孤立病例：已经提出了该性状的显性和隐性遗传。这份报告记录了在一对受影响的单卵双胞胎中观察到的基因表达的临床变化，这是第一次描述该综合征。在双胞胎中观察到的显著表型变异表明，仅通过临床标准很难区分该综合征的遗传异质性和基因表达变异。在缺乏对原发基因缺陷的了解的情况下，对先证者的所有一级亲属进行详细检查对于遗传咨询至关重要。
At least 47 cases of the popliteal pterygium syndrome have been reported in the literature. Of these, 27 affected individuals were multiplex cases occurring in 10 families, while 20 were isolated cases: both dominant and recessive inheritance Of the trait have been proposed. This report documents the clinical variation in gene expression observed in a pair of affected monozygous twins, the first to be described with the syndrome. The marked phenotypic variation noted in the twins suggests that it will be difficult to distinguish genetic heterogeneity from variation in gene expression in this syndrome by clinical criteria alone. In the absence of knowledge of the primary gene defect, detailed examination of all first‐degree relatives of probands is essential for genetic counseling.