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Congenital Central Hypoventilation syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
CCHS usually arises early in the formation of the new embryo, due to a spontaneous genetic mutation found on Chromosome 4, but in five to ten per cent of cases, one parent may carry the mutated (damaged) gene PHOX2b and pass this on to the child. As this is a "dominant" gene, such children will always be affected.

Prenatal diagnosis
Possible.

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Medical text written October 1996 by Dr M Samuels. Last updated August 2006 by Dr M Samuels, Consultant Paediatrician/Senior Lecturer in Paediatrics, North Staffordshire Hospital/Keele University, Stoke-on-Trent, UK.

 

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