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Obstetrics & Gynecology 1974;44:42-46
© 1974 by The American College of Obstetricians and Gynecologists
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Primary Amenorrhea in a 46, XX/46, XXq-Female

HOWARD R. NANKIN, MD and THOMAS LOIUDICE, DO

From the Department of Medicine. Montefiore Hospital and the University of Pittsburgh School of Medicine. Pittsburgh, Pennsylvania.

Primary gonadal failure was documented in a 31-year-old female who was 160 cm tall. Cytogenetic studies revealed –16 chromosomes in lymphocytes. Karyotypic analysis demonstrated mosaicism with two chromosome complements. Y fluorescence staining of interphase cells and trypsin banding studies of chromosomes documented the partial deletion of the long arm of the X chromosome (X(]-) in some cells. The continuum of gonadal dysgenesis, including the phenotypic features and medical complications, is reviewed.






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Copyright © 1974 by the American College of Obstetricians and Gynecologists.