An Adult Phenotypic Male with a 46, XX Chromosome Complement

Publisher Website
Google Scholar
Abstract
A 24-yr-old phenotypic male with hypogonadism and a very small atrophic right kidney is described, whose buccal smear showed 25% chromatin positive cells and whose metaphases from peripheral leukocyte and skin cultures had a 46,XX chromosome constitution. Autoradiographic studies revealed that one of the C group chromosomes was late-replicating. The 10 previously reported cases are reviewed in light of the present case. Attention is called to the fact that 2 of the 10 cases have abnormal kidneys (one patient with bilateral agenesis and one with unilateral atrophy). The connection, if any, with the chromosomal findings is not known. Several alternate hypotheses are presented to account for the findings in this patient. Cytological evidence at present is not available to specify which hypothesis is most tenable.

This publication has 0 references indexed in Scilit: