XX true hemaphroditism in Southern Africa blacks: Exclusion of SRY sequences and uniparental disomy of the X chromosome

Journal Article · Mon Jan 02 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320550115· OSTI ID:91100

Spurdle, A B; Shankman, S; Ramsay, M ^[1]

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1. Univ. of Witwatersrand, Johannesburg (South Africa)

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 of 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. 29 refs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 91100
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 55; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
ETIOLOGY
GENES
GENETIC MAPPING
GENETICS
HUMAN X CHROMOSOME
HUMAN Y CHROMOSOME
KARYOTYPE
LYMPHOCYTES
MOSAICISM
PATIENTS
POLYMERASE CHAIN REACTION
SEX
SOUTH AFRICA
UROGENITAL SYSTEM DISEASES