FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY (DUPAN SYNDROME) IN AN INBRED PAKISTANI KINDRED

被引：10

作者：

AHMAD, M

ABBAS, H

WAHAB, A

HAQUE, S

机构：

[1] Dept. of Biological Sciences, Quaid-i-Azam University, Islamabad

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 03期

关键词：

autosomal recessive inheritance; dysostosis; inbreeding; pedigree;

D O I：

10.1002/ajmg.1320360309

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A Pakistani kindred comprising 7 generations contained 7 men and 2 women with fibular hypoplasia and complex brachydactyly (syn: Du Pan syndrome). Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance. The average inbreeding coefficient (F) for the affected persons was found to be significantly greater than that for unaffected persons in the pedigree and consanguineous loops could account for all affected persons being homozygous for the abnormal allele.

引用

页码：292 / 296

页数：5

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