Ahmad M, Abbas H, Wahab A, Haque S
Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Am J Med Genet. 1990 Jul;36(3):292-6. doi: 10.1002/ajmg.1320360309.
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.
一个包含7代人的巴基斯坦家族中有7名男性和2名女性患有腓骨发育不全和复合型短指（同义词：杜潘综合征）。系谱分析强烈提示为常染色体隐性遗传。发现患病者的平均近亲繁殖系数（F）显著高于家族中未患病者，且近亲通婚圈可以解释所有患病者均为异常等位基因的纯合子。
