Normal female carrier and affected male half-sibs with t(X;5)(q13;p15). Location of a gene determining male genital development.
A unique family in which half-brothers have a maternally derived t(X;5)(q13;p15) and similar genital malformations is described. This family provides evidence for a gene required for male genital development located at Xq13.
D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities* / Q000254:growth & development; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014960:X Chromosome