Pure gonadal dysgenesis with nonmosaic XY sex chromosomes.
A person with pure gonadal dysgenesis (XY) is described in whom peripheral leukocytes, skin, fascia, and both gonads were subjected to chromosomal analysis, confirming a lack of mosaicism. Previous case reports and the developmental and genetic basis for such an anomaly are reviewed.
D000293:Adolescent; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*