Genetic diseases – Mnemonic

GENETIC DISEASES – Mnemonic

Autosomal recessive diseases:

  • SICKLE CELL ANAEMIA: gene present on the 11th chromosome.
  • PHENYLKETONURIA: gene present on the 12th chromosome.
  • THALASSEMIA: α-thalassemia gene is present on 16th chromosome while β-thalassemia gene is present on the 11th chromosome.
  • ALKAPTONURIA: the gene is present on the 3rd chromosome.
  • CYSTIC FIBROSIS: the gene is present on 7th chromosome.

Mnemonic: Alka, Sick Thi, Phenyl pine Ce

Sex-linked recessive diseases:

  • HEMOPHILIA:
  • COLOR-BLINDNESS:
  • NIGHT BLINDNESS:
  • DUCHENNE’S MUSCULAR DYSTROPHY:

Mnemonic: Color-blindness se Humme Night ko Difficulty hoti hai.

Aneuploidy:

Trisomy

  • PATAU SYNDROME: trisomy of the 13th chromosome.
  • EDWARDS SYNDROME: trisomy of the 18th chromosome.
  • DOWN SYNDROME: trisomy of the 21st chromosome.
  • KLINEFELTER’S SYNDROME in human males: the presence of XXY chromosome.

To remember: 13 + 5 = 18 + 3 = 21 
  • 13, 18, 21: PED

Monosomy:

  • TURNER’S SYNDROME in human females: presence of a single X chromosome.

Chromosomal Aberration:

  • CRI-DU-CHAT SYNDROME: deletion in short arm of the 5th chromosome.
  • LEUKEMIA: deletion in the long arm of the 22nd chromosome and is added to the 9th chromosome.

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