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  • Title: 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.
    Author: Erickson RP, Verga V, Dasouki M.
    Journal: Am J Med Genet; 1990 Jun; 36(2):232-6. PubMed ID: 2368811.
    Abstract:
    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.
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