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
RP Erickson, V Verga, M Dasouki - American journal of medical …, 1990 - Wiley Online Library
RP Erickson, V Verga, M Dasouki
American journal of medical genetics, 1990•Wiley Online LibraryUsing 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 …
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 …
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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