FreeMD® Genetic Disease Underlying Cause

Genetic Disease

Underlying Cause

Genetic Disease Underlying Cause

There are three types of genetic disease:

Single gene disorders:

The disease is caused by a single gene on a chromosome that is abnormal.
Examples include: cystic fibrosis, Huntington's disease, Marfan syndrome, and sickle cell anemia.

Polygenic disorders:

The disease is caused by multiple genes on one or more chromosomes that are abnormal.
Examples include: autism, heart disease, hypertension, diabetes, cleft palate, and some cancers.

Structural abnormalities of the chromosomes:

One of the 46 chromosomes may be abnormally short (missing DNA)
One of the 46 chromosomes may be abnormally long (extra DNA)
There are more than 46 chromosomes (there is an extra chromosome)
Examples include Down's syndrome, Klinefelter's syndrome, and Turner's syndrome.

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Last Updated: Jun 9, 2008

Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD

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