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Chromosomal Deficiencies - Williams Syndrome Pg 1 Williams Syndrome is a genetic disorder that was first discovered in 1961 It effects males and females equally It can occur to all ethnicity and is present at birth It occurs in about 120000 person and it causes both physical and developmental problems This disorder has a personal touch to me because my sister suffers from it I hope to be able to shine some light on how it effects a family and how it effects an individual on a more personal level Williams Syndrome is caused by missing genetic material on chromosome seven including the gene that makes the protein elastin a protein that provides strength and elasticity to vessel walls It is likely that the elastin gene deletion accounts for the physical features of Williams syndrome Some medical and developmental conditions are caused by deletions of materials near the gene elastin and can very among individuals In most families a child with Williams syndrome would be the only one in the entire extended family but has a 50 chance of passing it onto their children Many people with Williams syndrome go undiagnosed until a late age This can be serious as people with Williams syndrome can have serious and possibly progressive medical problems When the symptoms of Williams syndrome are discovered the patient is usually referred top a genetic specialist where further diagnostic tests are run The clinical diagnosis can be confirmed with a blood test The technique is known as flourescent in situ hybridization FISH It discovers the gene elastin deletion on chromosome seven Ninety Eight of people with Williams Syndrome have this deletion Most children with Williams Syndrome are descried as having the same facial features They can only be confirmed by a birth defect special but they usually consist of small upturned noses A long upper lip wide mouth full lips
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