Chromosome 16p13.3 Duplication syndrome

What is Chromosome 16p13.3 Duplication syndrome?

This rare disease is a genetic syndrome caused by the duplication of a gene located on a specific part of chromosome 16.

It is a newly identified condition, first identified in 2010. Since then there have been just 26 cases of the syndrome diagnosed.

What gene changes cause Chromosome 16p13.3 Duplication syndrome?

The syndrome is the result of a duplication of the gene CREBBP located on chromosome 16.

The larger the duplication, generally the more severe the syndromes are.

The syndrome is not to be confused with Rubinstein-Taybi which is caused by mutations in the CREBBP gene.

What are the main symptoms of Chromosome 16p13.3 Duplication syndrome?

The syndrome causes developmental delay and presents with mild to moderate intellectual disability. Individuals may also display signs of delayed speech and language development.

Many individuals are affected by joint abnormalities. An identifying feature of the syndrome is a proximally implanted and very small thumb.

The syndrome may also affect the eyes, with drooping upper eyelids and strabismus (cross eyes) reported amongst individuals. Other unique features include small and crowded teeth.

Behavioral issues have been reported amongst individuals, including ADD and Autism Spectrum disorder.

How does someone get tested for Chromosome 16p13.3 Duplication syndrome?

The initial testing for Chromosome 16p13.3 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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