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一个患有II型并指(多指并指)的家族。

A family with syndactyly type II (synpolydactyly).

作者信息

Ridler M A, Laxova R, Dewhurst K, Saldańa-Garcia P

出版信息

Clin Genet. 1977 Oct;12(4):213-20. doi: 10.1111/j.1399-0004.1977.tb00929.x.

Abstract

Syndactyly Type II is reported in eight members of a family in four generations. Affected individuals show two distinctive patterns of variation in the expression of the gene. Distortion of dermatoglyphic patterns is associated with the severe but not the mild manifestation of the malformation. The diagnostic significance of minimal features of the condition is discussed. Linkage data suggest that loci for Syndactyly II and for blood-group antigens ABO, MNSs, P, Rh and Kell are not closely linked.

摘要

在一个家族的四代八名成员中发现了Ⅱ型并指畸形。受影响的个体在该基因表达上呈现出两种不同的变异模式。皮纹模式的畸变与该畸形的严重表现相关,但与轻度表现无关。本文讨论了该病微小特征的诊断意义。连锁数据表明,Ⅱ型并指畸形基因座与血型抗原ABO、MNSs、P、Rh和Kell的基因座没有紧密连锁。

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