Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy

Primarosa R. de Chieri, K. Hirschhorn

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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 languageEnglish
Pages (from-to)149-152
Number of pages4
JournalHuman Genetics
Volume52
Issue number1
DOIs
StatePublished - Nov 1979

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