Familial XX chromosomal maleness does not arise from a Y chromosomal translocation

Harry Ostrer, Gabriela Wright, Mark Clayton, Nicos Skordis, Margaret H. MacGillivray

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


To determine the mechanism for the coexistence of XX chromosomal maleness and true hermaphroditism in the same family, we performed cytogenetic and molecular genetic analyses, using DNA probes from the short arm of the Y chromosome. These studies excluded the following possible mechanisms: (1) an inherited, mitotically unstable Y chromosome that results in chromosomal mosaicism, (2) an inherited Y-to-X or Y-autosomal translocation, (3) recurrent Y-to-X translocation, and (4) incomplete inactivation of the X chromosomal homolog for the testicular determining factor. We conclude that the disorder of sexual differentiation observed in this family can be best explained by a dominant autosomal gene with variable expressivity.

Original languageEnglish (US)
Pages (from-to)977-982
Number of pages6
JournalThe Journal of Pediatrics
Issue number6
StatePublished - Jun 1989
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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