title: [Molecular analysis of the Y chromosome in XX sex-reversed patients].
abstract: Molecular genetic analysis was performed for 26 phenotypically male patients lacking the Y chromosome in the karyotype. The sex-determining region Y (SRY) gene was found in 77% of the patients. PCR analysis of Y-specific loci in the 17 SRY-positive patients revealed Yp fragments varying in size in 16 cases and cryptic mosaicism (or chimerism) for the Y chromosome in one case. The frequencies of class I, II, and III (Yp+)XX sex reversals were 18.75, 25.25, and 56%, respectively. All of the class III (Yp+)XX sex-reversed patients had a 3.5-Mb paracentric inversion flanked by inverted repeats 3 (IR3) on the short arm of the Y chromosome.
authors.forename: V B
authors.initials: VB
authors.lastname: Chernykh
authors.forename: A L
authors.initials: AL
authors.lastname: Chukhrova
authors.forename: N N
authors.initials: NN
authors.lastname: Vasserman
authors.forename: E V
authors.initials: EV
authors.lastname: Il'ina
authors.forename: M E
authors.initials: ME
authors.lastname: Karmanov
authors.forename: V P
authors.initials: VP
authors.lastname: Fedotov
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D012729:Sex Chromosome Aberrations