0 Genomic Imprinting & Uniparental Disomy

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 Genomic Imprinting 

Differential expression based on parent of origin.

Deletion 15q (11-13)

  • If Paternal - Prader–Willi syndrome.
  • If Maternal - Angelman syndrome  

Prader-Willi Syndrome

  • Obesity
  • Hypotonia 
  • Small hands and feet
  • Mental retardation
  • Hypogonadism


Angelman = Happy puppet sundrome

  • Normal at birth
  • Seizures
  • Mental retardation
  • Ataxia
  • Microcephaly
  • Inappropriate Laugh



 Uniparental Disomy 
If both abnormal alleles from single parent.
egs:
1. Some cases of Cystic Fibrosis
2. Sickle cell anaemia
3. 10% cases of  Prader–Willi syndrome & Angelman syndrome
Note :
Paternal disomy - Angelman (unlike deletion)
Maternal disomy - Prader-Willi




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