Estimation of Risks of Genetic Counselling

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Dr. Reeja Tharu
Medically Reviewed by The Medindia Medical Review Team  on Jan 25, 2016
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Interesting Features about above inheritance includes

  • Males and females - equally affected 
  • 25% of offspring - Affected 
  • Horizontal transmission with chances of skipped generations is always present. 
  • Consanguinity between parents play a role in their condition 
  • The Traits are observed more commonly within smaller families. 

AUTOSOMAL DOMINANT 

Leprosy

a - affected chromosome with gene. 

Examples of the above type of Autosomal dominant inheritance includes.

   a) Adult polycystic kidney disease

b) Von - Hippele liadan ( VHL ) syndrome

  c) Papillary renal cell carcinoma

d) Wilm’s tumour. 

Intersting features about Autosomal Dominant inheritance includes the following. 

  • Males & females are equally affected. 
  • Vertical transmission - with an affected individual in each generation. 
  • Hamozygous dominant condition is often fatal. 
  • Prominent in larger families. 
  • Father to son transmission is possible 

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I am Nagarasan in India. I am affected with congental myotonia from childhood. What genetic counseling is there for curing this in gene theraphy.

Guest

Gene therapy is still not an approved therapy in human beings.

However, limited symptomatic treatment may be available.

Also, if you have the genetic confirmation of the disorder, you can potentially prevent the future generation from inheriting the same condition.

Regards,

Dr. Risha Nahar
Genetic Consultant

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