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A family with the testicular feminisation syndrome
N C Nevin1,2,3, J Willis1,2,3, R A Magee1,2,3
1Department of Medical Genetics, The Queen's University of Belfast, Belfast.
Abstract:
A family of three sibs with the complete testicular feminisation syndrome is reported. The patient's mother had features, namely, sparse public and axillary hair, of the carrier state and a maternal aunt had primary amenorrhoea. The pathology of six gonads is described and the risk of tumour formation discussed. The possible mode of inheritance of the syndrome is reviewed.
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