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Patau syndrome
Background
Patau syndrome: Trisomy 13; 13+ syndrome
Patau syndrome is a chromosome abnormality where the child has an extra chromosome 13 in every cell. It is a rare condition, seen in about 1 in 7,000 live births. There are three types of the syndrome:
full form – in this form, every cell in the body has three chromosome 13s instead of two.
mosaic form – in this form, some cells have two chromosome 13s while others have three. The extent and severity of the condition will depend upon the ratio of normal to abnormal cells.
partial form – in some cases there may be an extra copy of part of chromosome 13. This is referred to as ‘partial trisomy 13’. This may be due to a ring chromosome or an unbalanced translocation. The effects of this may be milder and would require further specialist advice.
Babies with the full form may not survive to term and around half die in the first 6 months of life. A few children will survive past a year and there are small numbers of individuals who survive into adulthood.
