Down Syndrome Glossary of Terms

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

Abdominal: Relating to the abdomen, the belly, that part of the body that contains all of ...

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Acute: Of abrupt onset, in reference to a disease. Acute often also connotes an illness th...

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Acute lymphoblastic leukemia (ALL): An acute (sudden onset), rapidly progressing form of l...

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ADHD: Attention deficit hyperactivity disorder.

Advanced maternal age: Usually defined as age 35 or more for the mother at the time of del...

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Alzheimer's disease: A progressive degenerative disease of the brain that leads to dementi...

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Amniocentesis: A before-birth diagnostic procedure during which a long needle is used to o...

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Amniotic fluid: The fluid bathing a fetus within the uterus, which serves as a shock absor...

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Analysis: In psychology, a term for conversation-based therapeutic processes used to gain ...

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Anus: The opening of the rectum to the outside of the body.

Apnea: The absence of breathing (respiration).

Atresia: Absence of a normal opening, or failure of a structure to be tubular. Atresia can...

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Atrial: Pertaining to the atria, the upper chambers of the heart, as in atrial fibrillatio...

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Attention deficit hyperactivity disorder: A disorder in which a person is unable to contro...

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Autism: A spectrum of neuropsychiatric disorders characterized by deficits in social inter...

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Brain: The portion of the central nervous system that is located within the skull. It func...

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Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, ...

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Cardiac: Having to do with the heart.

Celiac disease: A disorder resulting from an immune reaction to gluten, a protein found in...

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Cell: The basic structural and functional unit of any living thing. Each cell is a small c...

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Cerebellum: The portion of the brain that is in the back of the head, between the cerebrum...

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Cervical: Having to do with any kind of neck, including the neck on which the head is perc...

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Chorionic villus sampling: A procedure for first-trimester prenatal diagnosis. Abbreviated...

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Chromosome: A carrier of genetic information that is visible under an ordinary light micro...

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Chromosomes: The microscopically visible carriers of the genetic material. They are compos...

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Cognition: The process of knowing. Cognition includes both awareness and judgment.

Cognitive: Having to do with thought, judgment, or knowledge.

Conception: 1. The union of the sperm and the ovum. Synonymous with fertilization.
...

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Congenital: A condition that is present at birth, whether or not it is inherited.

Constipation: Infrequent and frequently incomplete bowel movements. Constipation is the op...

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Dementia: Significant loss of intellectual abilities, such as memory capacity, that is sev...

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Depression: An illness that involves the body, mood, and thoughts and that affects the way...

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Diagnosis: 1 The nature of a disease; the identification of an illness. 2 A ...

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Down syndrome: A common birth defect that is usually due to an extra chromosome 21 (trisom...

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Down syndrome critical region: (Abbreviated DSCR) A region on the long (q) arm of chromoso...

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Ductus: A duct or walled passageway suitable for the conveyance of air or, more often in t...

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Ductus arteriosus: A short vessel through which blood headed from the heart via the pulmon...

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Duodenal: Pertaining to the duodenum, part of the small intestine. As in duodenal ulcer or...

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Dysfunction: Difficult function or abnormal function.

Ear: The hearing organ. There are three sections of the ear, according to the anatomy tex...

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Epicanthal fold: A fold of skin that comes down across the inner angle of the eye. Epicant...

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Esophageal: Related to the esophagus.

Father: (1) The male parent. (2) One who originates. For example, "Wilhelm Roentgen is con...

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Femur: The single bone in the thigh, which is the largest bone in the human body. Also kno...

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Fertile: Able to conceive and bear offspring. Also known as fecund.

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Fertilization: The process of combining the male gamete, or sperm, with the female gamete,...

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Fistula: An abnormal passageway in the body. The fistula may go from the body surface int...

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Fluorescence in situ hybridization: An important molecular cytogenetic method for identify...

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Gastrointestinal: Adjective referring collectively to the stomach and small and large inte...

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Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) nee...

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Genetic: Having to do with genes and genetic
information.

Genetics: The scientific study of heredity. Genetics pertains to humans and all other orga...

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Gonadotropin: Hormones that are secreted by the pituitary gland, and that affect the func...

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Heart: The muscle that pumps blood received from veins into arteries throughout the body. ...

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Heart disease: Any disorder that affects the heart. Sometimes the term "heart disease" is ...

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Hippocampus: An area deep in the forebrain that helps regulate emotion, learning, and memo...

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Human chorionic gonadotropin: (hCG) A human hormone made by chorionic cells in the fetal ...

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Humerus: The long bone in the upper arm that extends from the shoulder to the elbow.

Hyperactivity: A higher than normal level of activity. An organ can be described as hyper...

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Hypothyroid: Deficiency of thyroid hormone which is normally made by the thyroid gland wh...

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Hypotonia: Decreased muscle tone and strength that results in floppiness. Hypotonia is a c...

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Imperforate anus: A birth defect in which the rectum is a blind alley and there is no anus...

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In situ: In the normal location. An in situ tumor is one that is confined to its site of o...

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In situ hybridization: The use of a DNA or RNA probe to detect complementary genetic mater...

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Indicate: In medicine, to make a treatment or procedure advisable because of a particular ...

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Infant: A young baby, from birth to 12 months of age.

Infantile spasms: A seizure disorder of infancy and early childhood with the onset predomi...

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Inheritance: The transmission of a gene from parent to child. The pattern of inheritance i...

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Intervention: The act of intervening, interfering or interceding with the intent of modify...

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Leg: In popular usage, the part of the body from the top of the thigh down to the foot, an...

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Leukemia: Cancer of the blood cells. Strictly speaking, leukemia should refer only to canc...

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Maternal: 1. Pertaining to the mother as, for example, the maternal mortality rate....

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Maternal age: The age of the mother at the time of delivery. Advanced maternal age is usua...

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Memory: 1. The ability to recover information about past events or knowledge. ...

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Mosaic: A person or a tissue that contains two or more types of genetically different cell...

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Mouth: 1. The upper opening of the digestive tract, beginning with the lips and con...

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Muscle: Muscle is the tissue of the body which primarily functions as a source of power. T...

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Myeloid: Referring to myelocytes, a type of white blood cell. Also known as myelogenous.

Neck: The part of the body joining the head to the shoulders. Also, any narrow or constric...

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Nose: The external midline projection from the face. The purpose of the nose is to warm, c...

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Nuchal: Referring to the back of the neck (nape). For example, nuchal rigidity is a stiff ...

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Nuchal translucency test: A measurement of the size of the translucent space behind the ne...

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Obesity: The state of being well above one's normal weight.

OCD: 1. Obsessive-compulsive disorder; 2. Osteochondritis dissecans.

Otitis: Inflammation of the ear. Depending upon which part of the ear is inflammed, there ...

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Otitis media: Inflammation of the middle ear characterized by the accumulation of infected...

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Ovum: An egg within the ovary of the female. An ovum can combine with sperm to form a zygo...

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Palmar: Pertaining to the palm (the grasping side) of the hand. The ancient Romans used th...

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Patent ductus: Failure of the ductus arteriosus, which functions in fetal life as an arter...

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Patent ductus arteriosus: Failure for the ductus arteriosus, an arterial shunt in fetal li...

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Percutaneous: Through the skin. For example, a percutaneous biopsy is a biopsy that is obt...

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Physical therapy: A branch of rehabilitative health that uses specially designed exercises...

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Pregnancy: The state of carrying a developing embryo or fetus within the female body. Thi...

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Prenatal: Occurring or existing before birth.

Prenatal diagnosis: Diagnosis before birth. Methods for prenatal diagnosis include ultraso...

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Psychiatric: Pertaining to or within the purview of psychiatry, the medical specialty conc...

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Recurrence: The return of a sign, symptom, or disease after a remission. The reappearance ...

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Recurrence risk: The chance that a disease will strike again. In medical genetics, the cha...

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Risk factor: Something that increases a person's chances of developing a disease. For exam...

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Robertsonian translocation: A common and significant type of chromosome rearrangement that...

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Sleep: The body's rest cycle.

Sleep apnea: The temporary stoppage of breathing during sleep, often resulting in daytime ...

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Speech therapy: The treatment of speech and communication disorders. The approach used var...

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Sperm: A sperm is the male "gamete" or sex cell. It combines with the female &qu...

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Stenosis: A narrowing. For example, aortic stenosis is a narrowing of the aortic valve in ...

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Surgery: The branch of medicine that employs operations in the treatment of disease or inj...

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Syndrome: A combination of symptoms and signs that together represent a disease process.

Testicular cancer: A malignant tumor of the male sex organ (testicle) that normally produc...

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Tetralogy of Fallot: A combination of four heart defects that are present at birth and acc...

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Therapy: The treatment of disease. Therapy is synonymous with treatment.

Thyroid: 1. The thyroid gland. Also, pertaining to the thyroid gland. 2. A p...

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Tongue: A strong muscle that is anchored to the floor of the mouth. The tongue is covered ...

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Trisomy: The presence of three copies of a chromosome rather than the normal two. The most...

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Ultrasound: High-frequency sound waves. Ultra-sound waves can be bounced off tissues by us...

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Umbilical cord: The cord that connects the developing fetus with the placenta while the fe...

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Ventricular: Pertaining to the ventricles, the lower chambers of the heart, as in ventricu...

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Villus: 1. A tiny finger-like or hair-like projection. 2. A small vascular p...

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Medical Dictionary