- Down Syndrome (Trisomy 21)
- Edwards Syndrome (Trisomy 18)
- Patau Syndrome (Trisomy 13)
- Klinefelter Syndrome
- Turner Syndrome
- Williams Syndrome
- Cri du Chat Syndrome
Imprinting Disorders include Prader-Willi Syndrome and Angelman Syndrome, congenital diseases affecting expression of genes on chromosome 15.
Prader-Willi Syndrome occurs when the maternal gene is imprinted (and hence silent) and the paternal gene is mutated/deleted. Prader-Willi Syndrome classically presents with hyperphagia and hypoplastic/undescended testicles.
Angelman Syndrome occurs when the paternal gene is imprinted and the maternal gene is mutated/deleted, and presents with inappropriate laughter ("happy puppet syndrome") and severe cognitive disability.
Find Prader-Willi, Angelman Syndrome, and more Chromosomal Abnormalities among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.