Genetics Mnemonics

The best genetics mnemonics for medical student finals, OSCEs and MRCP

• Adult Polycystic Kidney disease

  • ADult polycystic kidney syndrome is Autosomal Dominant
  • ‘Polycystic kidney’ = 16 letters, in 85% of cases mutation for APKD is in PKD1 on chromosome 16

• Prader-Willi and Angelman syndrome

  • Paternal 15q deletion gives Prader-Willi syndrome
  • Maternal 15q deletion gives angelMan syndrome

• Features of Marfan’s syndrome (MARFANS)

  • Mitral valve prolapse
  • Aortic dissection/ Aortic aneurysm
  • Regurgitant aortic valve / Retinal detachment
  • Fibrillin-1 mutation
  • Arm span > height / Arachnodactyly
  • Near-sighted / Nasal voice (high-arched palate)
  • Scoliosis / Subluxated lens / pectus eScavatum

• Features of DiGeorge syndrome (CATCH 22)

  • Cardiac abnormalities
  • Abnormal facies
  • Thymic hypoplasia/aplasia
  • Cleft palate
  • Hypocalcaemia
  • 22q11 deletion

• Features of Fragile X syndrome (Rule of M’s)

  • Male
  • Macroorchidism
  • Mental retardation
  • Maxillary excess 9long face)
  • Muscle tone decrease
  • Movements stereotyped
  • Mutation in FMR1 gene
  • Multiple CGG repeats
  • Mothers (females) are obligatory carriers

• Features of Tay Sachs disease (TAY SACHS)

  • Testing recommended
  • Autosomal recessive/ Amaurosis
  • Young death (<4years old)
  • Spot in macula
  • Ashkenazi Jews
  • CNS degeneration
  • Hexoaminidase A deficiency/ HEA gene mutation
  • Startle easily/ (lysosomal) Storage disorder/ Sphingolipidosis