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Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy

✍ Scribed by Primarosa R. Chieri; K. Hirschhorn

Book ID: 104704529
Publisher: Springer
Year: 1979
Tongue: English
Weight: 172 KB
Volume: 52
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00284610

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✦ Synopsis

A 12-year-old girl with small stature and a hypertrophic clitoris was found to be mosaic for 45,X/46,X.dic(Y)(qtertop11:p11toqter)/46,XX/47,XX,dic(Y)(qtertop11:p11toqter). The dicentric chromosome was identified using Q-banding. These findings indicate mitotic instability of the dicentric Y, as well as the presence of an X chromosome in this patient.

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