Research Paper on Williams Syndrome:
Williams syndrome or Williams-Beuren syndrom is an association of mental retardation, congenital heart disease, the facial features and behavior of the affected individual. There are also various abnormalities of the connective tissue, and there can be hypercalcemia.
This genetic disease bears the names of New Zealand cardiologist J.C.P. Williams, who first identified the disease in 1961 involving heart defect (congenital supra valvular aortic stenosis ), mental retardation, and facial “elfin” features, and the German pediatrician Beuren AJ (University of Göttingen) who described independently the association in 1962.
The cause of the syndrom was originally assigned to an overdose of vitamin D but its genetic origin was suspected in the early 1990s. It was then shown that the disease is, not a mutation, but at least a deletion of a gene.
Hemizygous microdeletion of 1.5 million base pairs of the locus q11.23 of chromosome 7 is found in 95 % of cases.
This microdeletion is either from the paternal or maternal chromosome. It leads to the elimination of more than 17 genes. The deleted zone corresponds to an area where many duplicated genes (or pseudogenes) are located, which would explain the greater likelihood of error during meiosis.
The majority of cases are sporadic (father and mother wearing normal versions of chromosome 7). The disease does not compromise fertility; a dominant autosomal transmission is possible.
The search for the microdeletion is usually done by using the FISH technique to prove the absence of an allele of the ELN gene. Another method is the search of copy by PCR of the three most involved genes in critical region ELN, LIMK1 or GTF21. The last method is the search for allelic loss by chromosomal study of both parents.
The child is often born prematurely and small. It often has digestive problems with vomiting, abdominal pain responsible for frequent crying, which could mimic Hirschsprung’s disease. It is often hypotonic, with an umbilical hernia and strabismus. The speech is late but it is good.
The diagnosis of Williams syndrome is often done clinically on a combination of several signs.
Behavior is characteristic with a very good contact. The person is very nice, helpful, smiling. Although the person with this syndrome is very friendly and sweet, the company finds it too friendly and too familiar, and the result is social isolation of the person with this syndrome.
People with this syndrome are very sensitive to noise. Although they are deemed gifted to music, their reputation as the “musical ear” is not scientifically substantiated. In adults, there is often anxiety and attention disorders.
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