Gonadal Dysgenesis with Unusual Abnormalities

Abstract
A case of gonadal dysgenesis with typical body configuration is described. The girl also had a high-tone deafness and hyperglycemia. Chromosome studies revealed a mosaicism of cells with 45 chromosomes of "A-XO constitution, and cells with 46 chromosomes in which an unusually large submetacentric late-labelling chromosome replaced one of the X chromosomes.