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Human Dicentric Y Chromosomes: Case Report and Review of the Literature
  1. Maimon M. Cohen*,
  2. Margaret H. MacGillivray,
  3. Vincent J. Capraro,
  4. Thomas A. Aceto
  1. Division of Human Genetics and Endocrinology, Department of Pediatrics, State University of New York at Buffalo School of Medicine and Children's Hospital of Buffalo, Buffalo, New York, USA


    A phenotypic female with histological evidence of mixed gonadal dysgenesis, and 45,X/46,X,dic(Yq) mosaicism is described. A review of the literature yielded 15 additional cases of dicentric Y chromosomes. Among the cases, a wide range of variation in phenotype, external genitalia, histology, and chromosomal findings was observed. Factors possibly contributing to such variability are discussed and include: the exact site of breakage and exchange in the Y chromosome; the timing of dicentric formation (meiotic vs mitotic); the occurrence of non-disjunction; and the presence or absence of a Y chromosome in cells of the gonadal anlage during a critical ontogenic period.

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    • * Present address: Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.