Diagnosis and Tests
The condition is typically diagnosed when your child is a baby or early during childhood . If your healthcare provider suspects your child has Williams syndrome, they will provide a physical examination of your child, followed by a genetic test, which is a blood test that identifies gene differences.
Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. ... Typically, ... Gabrielle Marion-Rivard · Supravalvular aortic stenosis · Syndromic autism |
22 сент. 2024 г. · Williams syndrome is a rare genetic disorder caused by a missing section of a chromosome. It causes unique facial features, physical symptoms, ... |
Williams syndrome is caused by a partial deletion of up to 28 genes on chromosome 7. This means that a section of genetic material on chromosome 7 is missing. What causes Williams... · Diagnosis of Williams syndrome |
A diagnosis of Williams syndrome relies on evaluating an individual's medical concerns and physical features. In some cases, Williams syndrome may be diagnosed ... |
31 мая 2022 г. · Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of ... |
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