Download e-book for kindle: Carnitine Palmitoyltransferase II Deficiency - A by Philip M. Parker

By Philip M. Parker

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Additional info for Carnitine Palmitoyltransferase II Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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State maps can help you locate a clinic in your area. org/. • The National Society of Genetic Counselors offers a searchable directory of genetic counselors in the United States. You can search by location, name, area of practice/specialization, and/or ZIP Code. cfm. • The National Cancer Institute provides a Cancer Genetics Services Directory, which lists professionals who provide services related to cancer genetics. gov/search/genetics_services/. Genetic Testing This section presents information on the benefits, costs, risks, and limitations of genetic testing.

Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of chromosome 15. Other conditions, such as Beckwith-Wiedemann syndrome (a disorder characterized by accelerated growth and an increased risk of cancerous tumors), are associated with abnormalities of imprinted genes on the short arm of chromosome 11. Are Chromosomal Disorders Inherited? Although it is possible to inherit some types of chromosomal abnormalities, most chromosomal disorders (such as Down syndrome and Turner syndrome) are not passed from one generation to the next.

Expert working groups may later revise the name to improve its usefulness. Naming is important because it allows accurate and effective communication about particular conditions, which will ultimately help researchers find new approaches to treatment. Disorder names are often derived from one or a combination of sources: • The basic genetic or biochemical defect that causes the condition (for example, alpha-1 antitrypsin deficiency) • One or more major signs or symptoms of the disorder (for example, sickle cell anemia) • The parts of the body affected by the condition (for example, retinoblastoma) • The name of a physician or researcher, often the first person to describe the disorder (for example, Marfan syndrome, which was named after Dr.

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