一名患有桡骨缺陷的成年男性的15号环状染色体。表型评估。

Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype.

作者信息

Meinecke P, Koske-Westphal T

出版信息

Clin Genet. 1980 Dec;18(6):428-33. doi: 10.1111/j.1399-0004.1980.tb01788.x.

DOI:10.1111/j.1399-0004.1980.tb01788.x

Abstract

A case of a 37-year-old male patient with r(15) is reported. At birth he was small and light for dates. His main features are: short stature, head circumference in the lower normal range, mid-facial hypoplasia, radial defects, and mental retardation. Evaluation of the phenotype led us to conclude that a wide spectrum of malformations is possible. There is apparently no strong correlation between karyotype and phenotype.

摘要

报告了一例37岁患有r(15)的男性患者。出生时，他的身高和体重低于孕周标准。他的主要特征包括：身材矮小、头围处于正常范围下限、面中部发育不全、桡骨缺损以及智力发育迟缓。对其表型的评估使我们得出结论，可能存在广泛的畸形。显然，核型与表型之间没有很强的相关性。