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Angelman syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Angelman syndrome may arise from a variety of genetic abnormalities, all of which involve the same part of chromosome 15 which contains the gene called UBE3A. The majority of children have a small deletion of the 15q11-13 region. Diagnostic testing for Angelman syndrome is complex. In the majority of families only one child is affected by Angelman syndrome but in 5-10% of cases brothers, sisters and extended family members may be affected. It is recommended that parents of an affected child should approach their local clinical genetics centre for genetic counselling and testing on an individual basis.

Prenatal diagnosis
Prenatal tests are available in those families where a definite genetic abnormality 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 August 2007 by Jill Clayton-Smith, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK.

 

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