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Fitango Education
          Health Topics

                   Genetic Disorders




http://www.fitango.com/categories.php?id=327
Overview
A genetic disorder is a disease caused by a
different form of a gene called a variation,
or an alteration of a gene called a mutation. Many
diseases have a genetic aspect. Some,
including many cancers, are caused by a mutation
in a gene or group of genes in a person's




                                                     1
Overview
cells. These mutations can occur randomly or
because of an environmental exposure such as
cigarette smoke.
Other genetic disorders are inherited. A mutated
gene is passed down through a family




                                                   2
Overview
and each generation of children can inherit the
gene that causes the disease. Still other
genetic disorders are due to problems with the
number of packages of genes called
chromosomes. In Down syndrome, for example,
there is an extra copy of chromosome 21.




                                                  3
Overview
If you know that you have a genetic problem in
your family, you can have genetic testing to see if
your baby could be affected.
NIH: National Human Genome Research Institute




                                                      4
Contents
-- Amyloidosis
-- Dwarfism
-- Gaucher Disease
-- Klinefelter Syndrome
-- Muscular dystrophy




                            5
Contents
-- Sickle-cell
-- Turner Syndrome




                            6
Resources
-- The PRF Diagnostic Testing Program - Progeria
Research Foundation
-- Genetics Home Reference - National Library of
Medicine
-- Newborn Screening - MedlinePlus




                                                   7
Resources
-- Undiagnosed Conditions in Adults - National
Human Genome Research Institute
-- Studying Genes - National Institute of General
Medical Sciences




                                                    8
Genetic Disorders

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Genetic Disorders

  • 1. Fitango Education Health Topics Genetic Disorders http://www.fitango.com/categories.php?id=327
  • 2. Overview A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some, including many cancers, are caused by a mutation in a gene or group of genes in a person's 1
  • 3. Overview cells. These mutations can occur randomly or because of an environmental exposure such as cigarette smoke. Other genetic disorders are inherited. A mutated gene is passed down through a family 2
  • 4. Overview and each generation of children can inherit the gene that causes the disease. Still other genetic disorders are due to problems with the number of packages of genes called chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21. 3
  • 5. Overview If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected. NIH: National Human Genome Research Institute 4
  • 6. Contents -- Amyloidosis -- Dwarfism -- Gaucher Disease -- Klinefelter Syndrome -- Muscular dystrophy 5
  • 8. Resources -- The PRF Diagnostic Testing Program - Progeria Research Foundation -- Genetics Home Reference - National Library of Medicine -- Newborn Screening - MedlinePlus 7
  • 9. Resources -- Undiagnosed Conditions in Adults - National Human Genome Research Institute -- Studying Genes - National Institute of General Medical Sciences 8