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Shwachman-Diamond syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal recessive but may occur sporadically. The gene affected is the SBDS gene found on chromosome 7. five per cent of all known cases have a common compound heterozygote mutation. Genetic testing following careful clinical evaluation is available at the North West Regional Genetics Reference Laboratory, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, Tel: 0161 276 6122 / 6605, contact Dr Martin Schwarz, Consultant Clinical Molecular Geneticist.

Prenatal diagnosis
Available for those with confirmed mutations in the SBDS gene.

View How is it treated? How is it treated?  |  Is there support? View Is there support?

Medical text written December 1993 by Professor P Milla. Last updated October 2005 by Professor P Milla, Professor of Paediatric Gastroenterology and Dr N Shah, Consultant Paediatric Gastroenterologist, Great Ormond Street Hospital, London, UK.

 

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