Williams-Beuren Region Duplication syndrome

What is Williams-Beuren Region Duplication syndrome?

Also known as 7q11.23 duplication syndrome this rare condition causes intellectual disability and global developmental delay in affected individuals.

What gene changes cause Williams-Beuren Region Duplication syndrome?

The syndrome is caused by the duplication of genetic material on the long arm of chromosome 7.

It can be inherited in an autosomal dominant pattern but most cases so far have been the result of de novo, or a new duplication.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Williams-Beuren Region Duplication syndrome?

The main symptoms of the syndrome include intellectual disability and developmental delay. This delay covers speech, language and motor skills development with speech and language being most severely affected.

Unique facial characteristics of the syndrome include a large head (macrocephaly), and facial dysmorphism, including amongst other features low set ears, a small jaw, and a sloping forehead. Low muscle tone or hypotonia is also common with the syndrome.

Other serious health conditions associated with the syndrome include seizures, as well as brain and heart defects with supravalvular aortic stenosis being the most commonly associated heart abnormality. Hypercalcemia is also frequently described.

How does someone get tested for Williams-Beuren Region Duplication syndrome?

The initial testing for Williams-Beuren Region Duplication syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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