Girl with Y chromosome sheds light on maleness

A seven-year-old girl with a Y chromosome is providing new clues about a possible "master switch" of maleness.

The girl has the normal chromosome count – 46 – and should be male. Other children who have the male sex chromosome but do not appear to be boys have been found to have gene mutations that temper the Y chromosome’s effects. However this child doesn’t have ambiguous gonads, shrivelled testes or other developmental defects. She instead has a normal vagina, cervix and set of ovaries.

A team led by Anna Biason-Lauber, of University Children’s Hospital in Zurich, Switzerland, thinks the patient’s normalcy is due to mutations in a poorly understood gene on chromosome 17 called CBX2.

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