Description, Signs and Symptoms
Williams syndrome is a rare, congenital disorder which occurs in 1 in 7,500 live births. Clinical diagnosis of Williams syndrome is based on a variety of physical and developmental characteristics. Medical diagnosis shows a deletion of genetic material including the elastin gene on chromosome #7.
There is no cure for Williams syndrome. Treatment is symptomatic and supportive. Individuals with Williams syndrome need regular monitoring for potential medical problems by a physician familiar with the disorder, as well as specialized services to maximize their potential.
Williams Syndrome is not an inherited condition; rather, it is caused by the deletion of part of Chromosome 7, which can happen randomly.
The diagnosis of Williams syndrome generally has two parts: Clinical diagnosis based on a variety of characteristics. See the Facts about Williams syndrome article for details.
Medical/genetic test confirmation through a blood test: the FISH test. The FISH test You can obtain a blood test to confirm the clinical diagnosis of Williams syndrome. A laboratory can use the technique known as fluorescent in situ hybridization (FISH).
FISH is a type of specialized chromosome analysis utilizing specially prepared elastin probes. If a patient has 2 copies of the elastin gene (one on each of their chromosomes #7), they probably do not have WS. If the individual only has one copy, the diagnosis of WS will be confirmed.
Virtually all (98-99%) persons with typical features of WS will have a deletion of the elastin gene.
In more technical terms:
Williams syndrome is the result of a deletion of the 7q11.23 region of chromosome #7 containing the elastin gene and is believed to be a contiguous gene syndrome. Diagnosis of Williams syndrome is confirmed by dual colour FISH using a specific probe and a control probe. The laboratory will need 5 ml of blood drawn in a Sodium heparin tube. The sample should arrive in the lab the same day it was drawn or on the following day. Results are usually available in 2-4 weeks.
The FISH test is readily available at major hospitals and Cytogenetics laboratories around the country, but it is not a routine test. Therefore not all labs will do FISH-based diagnosis. Families or their physicians should call the lab in advance to make sure they can perform the test.
If you have any doubts that a child may have Williams syndrome, the FISH test will give you a clear cut answer in most cases.
It is important to stress that WS is a genetic diagnosis and an individual who does not have the gene deletion does not have Williams syndrome (i.e. a person who was clinically diagnosed with WS but was later found not be have a deletion in fact does NOT have WS).
NOTE: It is extremely unlikely that any other family member also has Williams syndrome. On the other hand, if the individual with Williams syndrome plans to become a parent, there is a 50/50 chance that his or her child will have Williams syndrome. If such a situation should arise, consult an obstetrician about using the FISH test for prenatal testing of the embryonic cells.
Treatment and Management
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