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Wolf-Hirschhorn syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Once a child has been diagnosed, the chromosomes of the parents should be checked. In the majority of cases these will be normal indicating that the deletion or rearrangement was present in the egg or sperm cell. In this situation, a couple's chance of having another affected child is low (under one per cent).
In the remaining cases there may be a more complex chromosome rearrangement or translocation which one parent may carry in a balanced form. If this is the case, then the chance of having a second affected child is assessed on an individual basis and in addition, blood tests may be arranged for other family members.
Genetic counselling is available.
Prenatal diagnosis
Chorionic villous sampling at eleven to twelve weeks gestation and amniocentesis from sixteen weeks gestation are available.
What are the causes?
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