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  • Title: A unique dicentric X;Y translocation with Xq and Yp breakpoints: cytogenetic and molecular studies.
    Author: Bernstein R, Rosendorff J, Ramsay M, Pinto MR, Page DC.
    Journal: Am J Hum Genet; 1987 Aug; 41(2):145-56. PubMed ID: 3039838.
    Abstract:
    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.
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