INVERSION HOMOZYGOSITY OF CHROMOSOME-9 IN A HIGHLY INBRED KINDRED

Abstract

A pericentric inversion of chromosome 9 was present in 7 of 10 members of a highly inbred kindred investigated; 2 were inversion homozygotes and 5 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. No causal relationships exists between the inversion and the abnormal phenotype.