Chromosome 9p Deletion syndrome

What is Chromosome 9p Deletion syndrome?

This rare disease is a genetic syndrome caused by deleted and missing copies of DNA on chromosome 9.

The symptoms and severity of the syndrome vary according to the size of the deletion, its location and the specific gene or genes involved.

The main symptoms of the syndrome include intellectual disability and a number of unique facial features.

What gene changes cause Chromosome 9p Deletion syndrome?

The syndrome is caused by deleted or missing copies of DNA on chromosome 9.

50% of the cases are the result of random deletion, while the other 50% are believed to have been inherited from parents with no features themselves or through balanced translocation.

What are the main symptoms of Chromosome 9p Deletion syndrome?

Intellectual disability and developmental delay are main symptoms of the syndrome.

The syndrome may also lead to hypotonia (low muscle tone), heart issues, scoliosis and genital abnormalities.

Physical features of the syndrome include an upturned nasal tip (anteverted nares), narrow openings between the eyelids, a short and broad skull, depressed bridge of the nose, a high palate, wide-set eyes, a long philtrum, a short neck, a low hairline at the back of the neck, neck webbing, low set, small ears and a small lower jaw.

Symptoms may also include a prominently placed thumb, thin nails and a triangular shaped skull.

How does someone get tested for Chromosome 9p Deletion syndrome?

The initial testing for Chromosome 9p Deletion 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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