Williams Syndrome

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Williams Syndrome

• By Jennifer Hoban

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Symptoms

• Slight facial abnormalities such as small
  upturned nose, puffiness around the eyes
• Heart and blood vessel problems including
  narrowing of vessels and aorta
• Hypercalcemia - Evaluated blood calcium
• Low birth weight, feeding problems, prone to
  colic
• Dental and kidney abnormalities, hernias, hearing
  sensitivity, musculoskeletal problems
• Overly friendly but has learning disabilities and
  usually are mildly retarded

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Testing

• FISH test - fluorescence in situ hybridization
  (250)
• Blood Sample is taken
• Treated with two fluorescence dyes
• Chromosome 7 is checked for the dye
• If found then in one not two then has syndrome
  and is missing the elastin gene
• In found in both then normal

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Chromosome 7
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Background

• 1 out of 20,000 children born
• There are 15 genes missing
• Elastin was the first discovered
• Elastin gives the body elasticity
• Found in arteries, lungs, skin and connective
  tissues
• Therefore effects heart, lungs, and muscle
  tissues

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Continued

• LIM-kinase1 second gene found on Chromosome 7
• Responsible for 3D thinking skills
• Found on the long arm 7q.11.23
• Spans 1.5 megabases
• Syndrome first diagnosised in the 1960s

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Some examples
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References

• Www.williams-syndrome.org
• http//www.wsf.org/
• Schultz, Roberts. Genetics of Childhood
  disordersXXVI Williams Syndrome and Brain
  Behavior Relationships. J. Of Amer. Academy of
  Child and Adolescent Psychiatry, May 2001.
• Siegel, Lee. Utah Scientists link Genes to
  Ability to Think Straight. Salt Lake City
  Tribune. 12 July, 1996