A unique dicentric X;Y translocation with Xq and Yp breakpoints: cytogenetic and molecular studies.
A 32-year-old woman presented with secondary amenorrhea and infertility. She was of normal height and her breasts were well developed, but she had streak gonads; there were no signs of virilization, and she showed no somatic stigmata of Turner syndrome. Chromosome analysis revealed a dicentric X;Y translocation with Xq and Yp breakpoints. Centromeric banding demonstrated a Y centromere and a "suppressed" X centromere. The karyotype of the patient was interpreted as 46,X,t(X;Y)(q22;p11). The Yp breakpoint was confirmed by DNA-hybridization studies with six probes detecting Y-specific sequences. These DNA-hybridization studies were consistent with the presence of the long arm, centromere, and much of the proximal short arm of the Y. The Y-DNA studies of this female also revealed the absence of the distal short arm of the Y chromosome, to which the testis-determining factor has previously been localized.
D000328:Adult; D000568:Amenorrhea / Q000235:genetics / Q000503:physiopathology; D002503:Centromere; D002871:Chromosome Banding; D004262:DNA Restriction Enzymes; D005260:Female; D006728:Hormones / Q000097:blood; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D012732:Sex Determination Analysis; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome
D006728:Hormones; D004262:DNA Restriction Enzymes