title: XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome.
abstract: A molecular investigation of 16 Bantu-speaking Black XX true hermaphrodites was undertaken in an attempt to determine the cause of the disorder. Y-specific sequences, including sequences mapping to the sex-determining region of the Y, were shown to be absent from lymphocyte tissue of all 16 patients tested. Y chromosome sequences were also absent from the ovarian and testicular components of both ovotestes of a single XX true hermaphrodite, thus excluding gonadal mosaicism involving Y chromosome sequences. Since there is evidence for Xp genes involved in testis determination/differentiation, uniparental disomy of the X chromosome was investigated in 14 XXTH families. Uniparental disomy was excluded in 12 of the 14 families, and isodisomy was excluded in the remaining two cases.
authors.affiliation: Department of Human Genetics, South African Institute for Medical Research, Johannesburg.
authors.forename: A B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: S
authors.initials: S
authors.lastname: Shankman
authors.forename: M
authors.initials: M
authors.lastname: Ramsay
mesh_terms: D000353:Africa, Southern; D000782:Aneuploidy; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D017931:DNA Primers; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009630:Nondisjunction, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012732:Sex Determination Analysis; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D017931:DNA Primers