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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