1 Chromosome 15

  • Albinism
  • Angelman syndrome (Maternal deletion or Paternal Disomy)
  • Prader willi syndrome (Paternal Deletion or Maternal Disomy)
  • Tay Sachs disease.
  • Marfan syndrome.
  • Bloom syndrome. 

Point to note : 

Fibrillin gene 1 (FBN 1) - On chromosome 15 - Marfan's Syndrome.

Fibrillin gene 2 (FBN 2) - On chromosome 5 - Beals syndrome

Mnemonic :
Its usually confusing to remember Prader willi and Angelman , deletion or disomy , maternal or paternal.
So here is the way

Prader Willi -- is Paternal Deletion (or maternal uniparental disomy) and Angelman's is vice-a-versa.

1 comment:

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