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Williams Syndrome

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Natalie Rideout

on 26 March 2013

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Transcript of Williams Syndrome

Williams Syndrome Luke MacDonald, Natalie Rideout and Robin Sommerfeld break causing deletion of chromosome 7
occurs when the male or female gamete is developing
chromosome 7 contains 25 genes, all contributing to characteristics
example genes deleted; CLIP2, ELN, GTF2IRD1
contribute to facial, social and cardiovascular defficiencies children with Williams syndrome were once thought to be fairies, elves, etc
both have:
small stature
upturned nose with flattened nasal bridge
kindness and sensitivity
love of music
pointed ears of fairies represent sensitivity to sound and music FISH testing What is Williams syndrome? Genetics Folklore What if you were a bird? neurodevelopmental syndrome
caused by deletion of genes on chromosome 7
distinct facial features
cardiovascular problems
very social and musical Any questions? Facial Features stellate iris pattern
puffy lower eyelid
prominent ear lobes
flat nasal bridge
short, upturned nose
full lips
widely spaced, small teeth Social traits cocktail party social skills
lack of social fear
see all faces as friendly
lack of social understanding
love of language and stories
skilled in music Health Problems Cardiovascular issues
High levels of Calcium in babies
Dental abnormalities
Developmental delays
Learning disabilities Treatment no standard treatment
no cure What does that
deletion cause?
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