<p>In this video a parent describes his experiences of receiving a diagnosis of a rare genetic syndrome. Although Nathaniel does not have Williams syndrome, many families may still relate to his father's experiences.</p>

In this video a parent describes his experiences of receiving a diagnosis of a rare genetic syndrome. Although Nathaniel does not have Williams syndrome, many families may still relate to his father's experiences.

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Key Fact
Diagnosis of Williams syndrome includes identification of characteristics and genetic tests

‚ÄčDiagnosis of Williams Syndrome


The first stage in diagnosing Williams syndrome oftens begins with recognition of the physical characteristics, which may include; puffiness around the eyes, a short nose, a broad forehead, cardiovascular problems and also feeding disturbance in early childhood.

 

This will be followed by a confirmatory genetic test. The most common genetic test is the Fluorescence In-Situ Hybrid (FISH) test.

 

The test involves taking a sample of blood and sending it to be tested for the deletion of elastin in chromosome 7. 

 

The test maps the genetic material of a person and can determine if there are genes missing.

 

There is now a newer genetic test called a micro-array analysis. This test provides additional information, such as the size of the deletion on chromosome 7.

 

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