Familial XX chromosomal maleness does not arise from a Y chromosomal translocation.
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.
Ostrer
H
H
Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610.
Wright
G
G
Clayton
M
M
Skordis
N
N
MacGillivray
M H
MH
D015139:Blotting, Southern; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome
D015342:DNA Probes; D004247:DNA