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Fabry disease

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Fabry disease is inherited in an X-linked manner. A female with Fabry disease has a 50% chance of transmitting the mutation in each pregnancy. An affected male transmits his mutation to all his daughters but not his sons.

Prenatal diagnosis
Chorionic villus sampling at ten to 12 weeks' gestation or by amniocentesis performed at about 15-18 weeks' gestation is possible for pregnancies of women who have Fabry disease Preimplantation genetic diagnosis may be available for families in which the disease-causing mutation has been identified.

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Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated January 2008 by Dr Derralyn Hughes, Lecturer in Haematology, Royal Free and University College Medical School, London, UK.

 

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