We report on a boy with long arm deletion of chromosome 10 and compare this
case to 10 previously reported patients. He had right cryptorchidism and a
bsence of the left testis, but the size of his penis was normal. Cytogeneti
c analysis of this case showed the deficiency of 10q26.1-26.3 and the prese
nce of 10qter. Four of 10 previously reported patients had an intersex phen
otype, and all others had combinations of cryptorchidism, micropenis and hy
pospadias. These facts indicate that the terminal of chromosome 10q is stro
ngly associated with abnormal male development.