CHROMOSOME 15 :
Point to note :
Fibrillin gene 1 (FBN 1) - On chromosome 15 - Marfan's Syndrome.
Fibrillin gene 2 (FBN 2) - On chromosome 5 - Beals syndrome
- 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.
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.
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