[Molecular analysis of the Y chromosome in XX sex-reversed patients].
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.
Chernykh
V B
VB
Chukhrova
A L
AL
Vasserman
N N
NN
Il'ina
E V
EV
Karmanov
M E
ME
Fedotov
V P
VP
Poliakov
A V
AV
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