Use of a probe for the putative sex determining gene, zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis.
Using reverse genetics, a candidate for the sex determining gene from the Y chromosome has recently been cloned. We have used a DNA probe from this gene to assess the presence of this crucial region of the Y chromosome in patients with sexual ambiguity or gonadal dysgenesis. The DNA from 3 cases of gonadal dysgenesis, one complicated by somatic anomalies and mental retardation, reacted normally with this putative sex determining gene. A patient having a small phallus and pseudovaginal, perineoscrotal hypospadias (PPSH) also had normal Y chromosomal DNA. We hypothesize that the defect in sex determination in all 4 cases is most probably subsequent to the primary sex determining switch.
Erickson
R P
RP
Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor 48109-0618.
Verga
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V
Dasouki
M
M
D000328:Adult; D001345:Autoradiography; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012732:Sex Determination Analysis; D014998:Y Chromosome
D015342:DNA Probes; D004247:DNA