Inversion homozygosity of chromosome no. 9 in a higly inbred kindred.
A pericentric inversion of chromosome no. 9 was present in seven of 10 members of a highly inbred kindred investigated; two were inversion homozygotes and five were heterozygotes. Inversion homozygosity was observed in both the propositus, ascertained because of ambiguous genitalia, and his phenotypically normal father. A phenotypically normal sister and brother with similar clinical findings proved to be inversion heterozygotes. These findings conclude that no causal relationship exists between the inversion and the abnormal phenotype.
D000328:Adult; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype