Williams Syndrome

By Jennifer Hoban

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

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

Chromosome 7

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

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 1960’s

Some examples:

References

Www.williams-syndrome.org http://www.wsf.org/ Schultz, Roberts. Genetics of Childhood disorders:XXVI

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