USMLE

Williams Syndrome

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Chromosomal Abnormalities
  1. Down Syndrome (Trisomy 21)
  2. Edwards Syndrome (Trisomy 18)
  3. Patau Syndrome (Trisomy 13)
  4. Klinefelter Syndrome
  5. Turner Syndrome
  6. Williams Syndrome
  7. Cri du Chat Syndrome
  8. Imprinting

Williams Syndrome is a congenital disease caused by a microdeletion of the long arm of chromosome 7, which includes the gene encoding elastin.

Since Williams Syndrome is caused by a microdeletion, the FISH technique is required for diagnostic confirmation. Clinical findings include elfin facies and excessive friendliness, cognitive delays, and hypercalcemia. Cardiovascular complications include supravalvular aortic stenosis, as well as renal artery stenosis

Find this Williams Syndrome Mnemonic and more Chromosomal Abnormalities mnemonics among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.