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Diastrophic Dysplasia

Inheritance patterns and prenatal diagnosis

Inheritance patterns
DTD is inherited in autosomal recessive manner.

Prenatal diagnosis
A range of testing is available. Where DTD is known in a family and the mutations in the SLC26A2 gene in the affected individual are known, chorionic villus sampling can be used at about ten to twelve weeks or amniocentesis at about fifteen to eighteen weeks. Ultrasound examination may identify typical skeletal abnormalities.

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

Medical text written January 2005 by Contact a Family. Approved January 2005 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK.

 

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