Download e-book for iPad: Argininosuccinic Aciduria - A Bibliography and Dictionary by Philip M. Parker

By Philip M. Parker

ISBN-10: 049711335X

ISBN-13: 9780497113353

ISBN-10: 1429496029

ISBN-13: 9781429496025

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Additional resources for Argininosuccinic Aciduria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

Example text

They provide structure for the body, take in nutrients from food, convert those nutrients into energy, and carry out specialized functions. Cells also contain the body’s hereditary material and can make copies of themselves. Cells have many parts, each with a different function. Some of these parts, called organelles, are specialized structures that perform certain tasks within the cell. Human cells contain the following major parts, listed in alphabetical order: • Cytoplasm: The cytoplasm is fluid inside the cell that surrounds the organelles.

If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra or missing chromosome in each of the body’s cells. 48 Argininosuccinic Aciduria Changes in chromosome structure can also cause chromosomal disorders. Some changes in chromosome structure can be inherited, while others occur as random accidents during the formation of reproductive cells or in early fetal development. Because the inheritance of these changes can be complex, people concerned about this type of chromosomal abnormality may want to talk with a genetics professional.

What Happens during a Genetic Consultation? A genetic consultation provides information, offers support, and addresses a patient’s specific questions and concerns. To help determine whether a condition has a genetic component, a genetics professional asks about a person’s medical history and takes a detailed family history (a record of health information about a person’s immediate and extended family). The genetics professional may also perform a physical examination and recommend appropriate tests.

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Argininosuccinic Aciduria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker

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