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Diamond Blackfan syndrome

Inheritance patterns and prenatel diagnosis

Inheritance patterns
In most cases DBA occurs sporadically. In subsequent generations the pattern of inheritance is typically autosomal dominant, although there may be variable severity within the family.

Prenatal diagnosis
Prenatal diagnosis is currently only possible if there is a mutation affecting RPS19, as DBA is usually clinically silent until early infancy.

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

Medical text written October 2003 by Dr S Ball, Consultant Paediatric Haematologist, St George's Hospital Medical School, London, UK.

 

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