Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy |
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| Authors: | Primarosa R. de Chieri K. Hirschhorn |
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| Affiliation: | (1) Instituto Nacional de Microbiologia Carlos G. Malbran, Buenos Aires, Argentina;(2) Department of Pediatrics, Mount Sinai School of Medicine of the City University of New York, 10029 New York, NY, USA |
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| Abstract: | Summary A 12-year-old girl with small stature and a hypertrophic clitoris was found to be mosaic for 45,X/46,X.dic(Y)(qter»p11:p11»qter)/46,XX/47, XX,dic(Y)(qter»p11:raqter). 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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