Phenotype of two males with abnormal Y chromosomes

Abstract

Two infertile males with sex chromosomal abnormalities and mosaic karyotype, 45,X/ 46,X,dic(Yq) and 45,X/46,X,ring(Y), had considerably changed physical findings, including tooth sizes and craniofacial dimensions. Spermatogenesis was preserved with abnormal meiotic chromosomal behaviour. Mosaic karyotype and structurally changed Y chromosome in both cases had an influence on physical parameters. Testes were normally developed and spermatogenesis was preserved but depressed in later stages. Copyright © 1990, Wiley Blackwell. All rights reserved