Small deletions of the short arm of the Y chromosome in 46,XY females.
Structural anomalies of the sex chromosomes provide a means to study the location of genes responsible for sex determination. Recently, a type of sex reversal in humans, the 46,XX male, was shown to result in some cases from translocation of Y chromosome material to the X chromosome. In the present report, another type of sex reversal, the 46,XY female, is shown to result, in two cases, from small deletions of the short arm of the Y chromosome. Prometaphase chromosome analysis showed a 46,X,Yp- karyotype. Several Y chromosome-specific DNA probes were found to be deleted in the two female patients. DNA analysis showed that the two deletions were different but included a common overlapping region likely to be essential for male determination.
Disteche
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CM
Casanova
M
M
Saal
H
H
Friedman
C
C
Sybert
V
V
Graham
J
J
Thuline
H
H
Page
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DC
Fellous
M
M
D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D009693:Nucleic Acid Hybridization; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
D004247:DNA