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一个近亲家系中的额鼻发育不全谱系

The spectrum of frontonasal dysplasia in an inbred pedigree.

作者信息

Moreno Fuenmayor H

出版信息

Clin Genet. 1980 Feb;17(2):137-42. doi: 10.1111/j.1399-0004.1980.tb00122.x.

Abstract

An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). Two of these individuals were products of a consanguineous mating with an inbreeding coefficient of F = 0.0391. The third affected individual (propositus), was born to a marriage in which the coefficient of inbreeding was 0.0742. The mother of the propositus, whose inbreeding coefficient was 0.0625, had borderline hypertelorism and a broad nose. Several other members of the pedigree who had hypertelorism were products of consanguineous matings. The presence of consanguinity in all individuals affected with a variety of manifestations of FND suggests a genetic mechanism for this malformation.

摘要

描述了一个近交系谱系,其中三名成员患有额鼻发育异常(FND)。其中两名个体是近亲交配的产物,近交系数F = 0.0391。第三名受影响个体(先证者)出生于一个近交系数为0.0742的婚姻。先证者的母亲近交系数为0.0625,有轻度眼距过宽和宽鼻。该谱系中其他几名患有眼距过宽的成员也是近亲交配的产物。所有患有各种FND表现的个体中都存在近亲关系,这表明这种畸形存在遗传机制。

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