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Gardner Syndrome Glossary of Terms

The following are health and medical definitions of terms that appear in the Gardner Syndrome article.

Adenomatous polyposis coli: See: APC (meaning 3).

Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Bowel: Another name for the intestine . The small bowel and the large bowel are the small intestine and large intestine , respectively.
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Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).
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Childhood: (1) The time for a boy or girl from birth until he or she is an adult. (2) The more circumscribed period of time from infancy to the onset of puberty .
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Chromosome: A visible carrier of the genetic information.
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Colon: The part of the large intestine that runs from the cecum to the rectum as a long hollow tube that serves to remove water from digested food and let the remaining material, solid waste called stool , move through it to the rectum and leave the body through the anus . .
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Colon cancer: A malignancy that arises from the inner lining of the colon . Most, if not all, of these cancers develop from colonic polyps . Removal of these precancerous polyps can prevent colon cancer.
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Colorectal: Related to the colon and/or rectum.

Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Dominant: A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes).
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Duodenum: The first part of the small intestine. The duodenum extends from the pylorus at the bottom of the stomach to the jejunum, the second part of the small intestine. The duodenum is a common site for the formation of peptic ulcers. We often live with words without thinking where they come from or what they originally meant. That is the case for me with the duodenum. For decades, this writer knew the duodenum as a short but troubled sector of the small intestine. Only today did I learn that the duodenum began as the dodeka-daktulon, twelve fingers to the Greeks, who astutely observed that the duodenum is about 12 finger-breadths long. In German, the popular term for duodenum is Zwölffingerdarm, the 12-finger intestine.

Expressivity: The consistency of a genetic disease . For example, Marfan disease shows variable expressivity. Some persons with Marfan's merely have long fingers and toes while others have the full-blown disease with dislocation of the lens and dissecting aneurysm of the aorta.
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Eye: The organ of sight. The eye has a number of components. These components include but are not limited to the cornea, iris, pupil, lens, retina, macula, optic nerve, choroid and vitreous.
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Familial: A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis ) or environmental (such as tuberculosis ).
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Familial adenomatous polyposis: Abbreviated FAP. A syndrome characterized by the formation of thousands of polyps in the colon and rectum with colorectal cancer the inevitable consequence. Polyps can also occur in the stomach, duodenum and the terminal ileum .
See the entire definition of Familial adenomatous polyposis

Familial polyposis: An inherited condition in which several hundred polyps develop in the colon and rectum.

FAP: Familial adenomatous polyposis, a prominent hereditary colon cancer syndrome.

Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Ileum: The lowest part of the small intestine , located beyond the duodenum and jejunum , just before the large intestine (the colon ). Pronounced "il-eum" in the US and "eye-leum" in the UK.
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Mutation: A permanent change, a structural alteration, in the DNA or RNA . In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV , mutations occur in RNA which is the genetic material of retroviruses.
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Penetrance: The likelihood a given gene will result in disease. For example, if half (50%) of the people with the neurofibromatosis (NF) gene have the disease NF, the penetrance of the NF gene is 0.5.

Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Puberty: A complex biologic and psychologic process involving sexual development, accelerated growth, and adrenal maturation heralded by the secretion of gonadotropin releasing hormone (GnRH) from a part of the brain called the hypothalamus . This event is the first known step in the reproductive cascade. It initiates the pulsatile release of gonadotropins , gonadal secretion of sex steroids, pubertal development, and gametogenesis (the production of sperm and ova ).
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Rectum: The last 6 to 8 inches of the large intestine. The rectum stores solid waste until it leaves the body through the anus. The word rectum comes from the Latin rectus meaning straight (which the human rectum is not).

Retina: The retina is the nerve layer that lines the back of the eye, senses light, and creates impulses that travel through the optic nerve to the brain. There is a small area, called the macula, in the retina that contains special light-sensitive cells. The macula allows us to see fine details clearly.
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Stomach: 1. The sac-shaped digestive organ that is located in the upper abdomen, under the ribs. The upper part of the stomach connects to the esophagus, and the lower part leads into the small intestine.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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 Gardner Syndrome Main Article |  Glossary |  Gardner Syndrome Index 






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