Read e-book online Carnitine-Acylcarnitine Translocase Deficiency - A PDF

By Philip M. Parker

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Read Online or Download Carnitine-Acylcarnitine Translocase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers PDF

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Extra info for Carnitine-Acylcarnitine Translocase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Sometimes, the abbreviations “cen” or “ter” are also used to describe a gene’s cytogenetic location. “Cen” indicates that the gene is very close to the centromere. For example, 16pcen refers to the short arm of chromosome 16 near the centromere. “Ter” stands for terminus, which indicates that the gene is very close to the end of the p or q arm. For example, 14qter refers to the tip of the long arm of chromosome 14. (“Tel” is also sometimes used to describe a gene’s location. “Tel” stands for telomeres, which are at the ends of each chromosome.

Incidence is often written in the form “1 in [a number]” or as a total number of live births. Examples About 1 in 200,000 people in the United States are born with syndrome A each year. An estimated 15,000 infants with syndrome B were born last year worldwide. Help Me Understand Genetics 33 Prevalence The prevalence of a gene mutation or a genetic disorder is the total number of people in a specified group at a given time who have the mutation or disorder. This term includes both newly diagnosed and preexisting cases in people of any age.

Conditions caused by a change in the number or structure of chromosomes are known as chromosomal disorders. Human cells normally contain 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. A change in the number of chromosomes leads to a chromosomal disorder. These changes can occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. A gain or loss of chromosomes from the normal 46 is called aneuploidy. Help Me Understand Genetics 31 The most common form of aneuploidy is trisomy, or the presence of an extra chromosome in each cell.

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