Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance.
Uncomplicated hypospadias was found in eight members of a large, consanguineous Bedouin family. Virilization and fertility were normal in the only postpubertal individual. The inheritance is most likely autosomal recessive and we suggest that in some of the familial cases in which polygenic or multifactorial inheritance was previously proposed, homozygosity for recessive genes may be responsible for the increased risk to siblings. Dominantly transmitted hypertelorism with diastema was an independent and coincidental finding in this family.
D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree; D012306:Risk