Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy

Primarosa R. de Chieri; K. Hirschhorn

doi:10.1007/BF00284610

Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy

Primarosa R. de Chieri
, K. Hirschhorn

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Abstract

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.

Original language	English
Pages (from-to)	149-152
Number of pages	4
Journal	Human Genetics
Volume	52
Issue number	1
DOIs	https://doi.org/10.1007/BF00284610
State	Published - Nov 1979

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title = "Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy",

abstract = "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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AU - Hirschhorn, K.

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N2 - 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.

AB - 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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JO - Human Genetics

JF - Human Genetics

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Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy

Abstract

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