title: Small deletions of the short arm of the Y chromosome in 46,XY females.
abstract: 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.
authors.forename: C M
authors.initials: CM
authors.lastname: Disteche
authors.forename: M
authors.initials: M
authors.lastname: Casanova
authors.forename: H
authors.initials: H
authors.lastname: Saal
authors.forename: C
authors.initials: C
authors.lastname: Friedman
authors.forename: V
authors.initials: V
authors.lastname: Sybert
authors.forename: J
authors.initials: J
authors.lastname: Graham
authors.forename: H
authors.initials: H
authors.lastname: Thuline
authors.forename: D C
authors.initials: DC
authors.lastname: Page
authors.forename: M
authors.initials: M
authors.lastname: Fellous
mesh_terms: D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D009693:Nucleic Acid Hybridization; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
chemical_list: D004247:DNA