A member asked:

What is a genetic disorder?

6 doctors weighed in across 2 answers

Chromosomes abn.: A genetic disorder is an abnormality in the genetic makeup of an individual, abn expression of chromosomes, (your internal blueprint). This may have been inherited from parents, or a result of a spontaneous change in genes. Epogenetics is the expression of your genes and can be influenced by environment and nutrition. So it doesn't always have to "run in the family".

Answered 4/12/2013

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Dr. Maulik Shah answered

Specializes in Clinical Genetics

Genetic syndrom: For any medical condition, there is a contribution from genetics, environment, diet, development etc. For some disorders the greatest contribution is genetic. For example pku is a rare genetic disorder. This means all individuals with a genetic alteration in the pku gene develop the disease. In addition, a genetic disorder is often defined by having a set group of signs and symptoms.

Answered 9/9/2012

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