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Hereditary Multiple Exostoses

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal dominant. Up to one third of affected individuals represent 'new cases', in whom neither parent have the condition. Genes responsible for eighty per cent of affected families are EXT1 (chromosome 8q24.1) and EXT2 (chromosome 11p11-13). These genes have been fully identified. Other genes (possibly on chromosomes 1 and 19) may be responsible for the remainder of families.

Prenatal diagnosis
Prenatal or family testing is occasionally available through consultation with a consultant clinical geneticist.

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Medical text written May 1998 by Mr D E Porter. Last updated June 2007 by Mr D E Porter, Senior Lecturer & Hon. Consultant in Orthopaedic Surgery, University of Edinburgh, Edinburgh, UK.

 

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