WILLIAMS SYNDROME

1
WILLIAMS SYNDROME

• Medical/Physical Symptoms
• Arterial Stenosis
• Distinctive Facies
• Growth Retardation
• Mental Retardation

2
(No Transcript)
3
Contiguous-Gene-Deletion Syndrome

• Williams Syndrome owes to an approximately 2.0
  megabase deletion on 7q11.23

4
(No Transcript)
5
Psychological Profile

• Cognitive Profile
• Relatively intact verbal and linguistic abilities
• Severely deficient visual-spatial abilities
• Musicality (?)
• Behavioral Profile
• Overly friendly (Hypersociality)
• Hyperactive, inattentive, and increased anxiety
• Hyperacusis

6
(No Transcript)
7
(No Transcript)
8
(No Transcript)
9
Williams Syndrome Summary

• Contiguous-gene-deletion ? specific behavioral
  phenotype
• Genetics does not necessarily easily reveal
  mechanism
• Ancient Folklore