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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 using the same technique which was used to detect the deletion or rearrangement (translocation) in the child. In the majority of cases, these will be normal indicating that the deletion or rearrangement (translocation) 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) but not nil.

In the remaining cases there may be a chromosome rearrangement (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 from eleven weeks gestation and amniocentesis from fifteen weeks gestation are available.

View What are the causes? What are the causes?  |  Is there support? View Is there support?

Medical text written February 2004 by Dr O Quarrell. Last updated October 2008 by DR O Quarrell, Consultant in Clinical Genetics, Centre for Human Genetics, Sheffield, UK and Dr N Shannon, Consultant in Clinical Genetics, Clinical Genetics Centre, Nottingham, UK

 

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