Chromosome study in a child with ambiguous genitalia

摘要

Chromosome study in a 2 1/2 yrs, old child with ambiguous genitalia is reported. Beside sex-chromosome mosaicism (45,X/46,XY), the structural abnormalities like ring-chromosome and telomeric associations among some of the chromosomes have also been recorded and held responsible for the death of the proband in infancy.