XO/XX And XO/XY Mosaicism: A Study Of A Family

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April 1972 - Volume 39 - Issue 4

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SIEGELMAN, MARTIN MD, FACOG

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From patients of author—the proband and her sister-in-law, wife of the male member of the family with mosaicism. All chromosome studies were performed in the laboratory facilities of St Peters General Hospital, New Brunswick, NJ.

Obstetrics & Gynecology 39(4):p 510-514, April 1972.

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Abstract

Three generations of a family underwent chromosome analyses. The proband and her daughter were XO/XX mosaics while her brother was an XO/XY mosaic. Transmission of chromosomal mosaicism within a family supports the hypothesis of genetic control for this post-zygotic mishap. An XO/XY mosaic who is phenotypically male and physically completely normal but who has a slightly deficient semen specimen is an unusual finding, emphasizing the need for more chromosome studies of the male partner in a marriage that is being investigated for infertility.

© 1972 The American College of Obstetricians and Gynecologists

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XO/XX and XO/XY Mosaicism: A Study of a Family Obstetrics & Gynecology39(4):510-514, April 1972.

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