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A rare genetic disorder first described by J.C.P. Williams of New Zealand, characterized by an abnormality on chromosome seven.
Williams syndrome (WS) is a genetic disorder first described by J.C.P. Williams of New Zealand. It is estimated to occur in about 1 in 20,000 births. Research has indicated that individuals with Williams syndrome have a chromosomal abnormality. A blood test technique known as the fluorescent in situ hybridization (FISH) may be used to detect the deletion of the elastin gene on chromosome #7 of the individual's DNA. This chromosomal abnormality confirms the diagnosis of Williams syndrome. Williams syndrome is present from birth, although it often remains undiagnosed until a later stage of
Symptom | Percent of infants with Williams syndrome exhibiting symptom |
Source: Williams Syndrome Association, 1997. | |
Failure to thrive | 81 % |
Congenital heart defects | 79% |
Feeding difficulty | 71 % |
Colic | 67% |
Constipation | 43% |
Vomiting | 40% |
Chronic ear infections | 38% |
Inguinal hernia | 38% |
Umbilical hernia | 14% |
Hypercalcemia | 4-... |
This section contains 910 words (approx. 4 pages at 300 words per page) |