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September 6, 2008
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 Turner Syndrome Main Article |  Glossary |  Turner Syndrome Index 

Turner Syndrome Glossary of Terms

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

Amniocentesis : Procedure used in prenatal diagnosis to obtain amniotic fluid which can be used for genetic and other diagnostic tests. Informally called an "amnio."
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Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.
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Aorta: The largest artery in the body, the aorta arises from the left ventricle of the heart, goes up (ascends) a little ways, bends over (arches), then goes down (descends) through the chest and through the abdomen to where ends by dividing into two arteries called the common iliac arteries that go to the legs.
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Arms: An appendage in anatomy and in clinical trials. See: Arm.

Blood pressure: The blood pressure is the pressure of the blood within the arteries. It is produced primarily by the contraction of the heart muscle. It's measurement is recorded by two numbers. The first (systolic pressure) is measured after the heart contracts and is highest. The second (diastolic pressure) is measured before the heart contracts and lowest. A blood pressure cuff is used to measure the pressure. Elevation of blood pressure is called "hypertension".

Cardiologist: A doctor who specializes in treating heart disorders.

Chest: The area of the body located between the neck and the abdomen . The chest contains the lungs , the heart and part of the aorta . The walls of the chest are supported by the dorsal vertebrae , the ribs , and the sternum .
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Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Diabetes: Refers to diabetes mellitus or, less often, to diabetes insipidus . Diabetes mellitus and diabetes insipidus share the name "diabetes" because they are both conditions characterized by excessive urination (polyuria).
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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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DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA . In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
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Donor: The giver of a tissue or organ, for example, of blood or a kidney.

Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the brain. Hearing thus involves all parts of the ear as well as the auditory cortex of the brain. The external ear helps concentrate the vibrations of air on the ear drum and make it vibrate. These vibrations are transmitted by a chain of little bones in the middle ear to the inner ear. There they stimulate the fibers of the auditory nerve to transmit impulses to the brain.
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Elbow: The juncture of the long bones in the middle portion of the arm. The bone of the upper arm (humerus) meets both the ulna (the inner bone of the forearm) and radius (the outer bone of the forearm) to form a hinge joint at the elbow. The radius and ulna also meet one another in the elbow to permit a small amount of rotation of the forearm. The elbow therefore functions to move the arm like a hinge (forward and backward) and in rotation (outward and inward). The biceps muscle is the major muscle that flexes the elbow hinge, and the triceps muscle is the major muscle that extends it. The primary stability of the elbow is provided by the ulnar collateral ligament, located on the medial (inner) side of the elbow. The outer bony prominence of the elbow is the lateral epicondyle, a part of the humerus bone. Tendons attached to this area can be injured, causing inflammation or tendonitis (lateral epicondylitis, or tennis elbow). The inner portion of the elbow is a bony prominence called the medial epicondyle of the humerus. Additional tendons from muscles attach here and can be injured, likewise causing inflammation or tendonitis (medial epicondylitis, or golfer's elbow). See also: Elbow bursitis ; Elbow pain ; Nursemaid's elbow.
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ENT: 1. Abbreviation for ears, nose and throat. A field of medicine also called otolaryngology.
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Estrogen: Estrogen is a female hormone produced by the ovaries. Estrogen deficiency can lead to osteoporosis .
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Fertility: The ability to conceive and have children, the ability to become pregnant through normal sexual activity. Infertility is defined as the failure to conceive after a year of regular intercourse without contraception.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genome: All of the genetic information, the entire genetic complement, all of the hereditary material possessed by an organism.
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Gland: 1. A group of cells that secrete a substance for use in the body. For example, the thyroid gland. 2. A group of cells that removes materials from the circulation. For example, a lymph gland.

Growth hormone: A hormone made in the pituitary gland that stimulates the release of another hormone called somatomedin by the liver, thereby causing growth. Also known as somatotropin. Growth hormone is produced by the anterior pituitary gland, the front section of the gland, and is a polypeptide that consists of 191 amino acids . Growth hormone is given to children with pituitary dwarfism (short stature due to underfunction of the anterior pituitary) to help them grow. Excessive growth hormone production in children can lead to gigantism, and in adults it can lead to acromegaly.
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Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
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Heart murmur: An unusual heart sound which may be innocent or reflect disease.

High blood pressure : Also known as hypertension, high blood pressure is, by definition, a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90.
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Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.
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Human genome: All of the DNA that a person possesses. The human genome is made up of all of the DNA in our chromosomes as well as that in our mitochondria . (Each of us has, in fact, two genomes -- a large chromosomal genome and a much smaller mitochondrial genome .) Our genome also includes every gene we own plus all of our junk DNA The human genome is both "the treasury of human inheritance" and a vast dump (or recycling center).
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Infertile: Not able to conceive after a year of regular intercourse without contraception.
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Karyotype: A standard arrangement of the chromosome complement done for chromosome analysis. For example, a normal human female karyotype would have 22 pairs of autosomes (non-sex chromosomes ) arranged in numerical order together with two X chromosomes. The term "karyogram" is a less used synonym for a karyotype.
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Kidney: One of a pair of organs located in the right and left side of the abdomen which clear "poisons" from the blood, regulate acid concentration and maintain water balance in the body by excreting urine. The kidneys are part of the urinary tract. The urine then passes through connecting tubes called "ureters" into the bladder. The bladder stores the urine until it is released during urination.


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Lymphedema: A common chronic , debilitating condition in which excess fluid called lymph collects in tissues and causes swelling ( edema ) in them.
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Memory: 1. The ability to recover information about past events or knowledge. 2. The process of recovering information about past events or knowledge. 3. Cognitive reconstruction. The brain engages in a remarkable reshuffling process in an attempt to extract what is general and what is particular about each passing moment.
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Metabolism: The whole range of biochemical processes that occur within us (or any living organism). Metabolism consists both of anabolism and catabolism (the buildup and breakdown of substances, respectively). The term is commonly used to refer specifically to the breakdown of food and its transformation into energy.

Middle ear: There are three sections of the ear. They are the external ear, the middle ear, and the inner ear. The middle ear consists of the ear drum (the tympanum or tympanic membrane) and, beyond it, a cavity. This cavity is connected via a canal (the Eustachian tube) to the pharynx (the nasopharynx). The Eustachian tube permits the gas pressure in the middle ear cavity to adjust to external air pressure (so, as you're descending in a plane, it's the Eustachian tube that opens when your ears "open"). The middle ear cavity also contains a chain of 3 little bones (ossicles) that connect the ear drum to the internal ear. The ossicles are named (not the Nina, the Pinta and the Santa Maria, but) the malleus, incus, and stapes. In terms of function, the middle ear communicates with the pharynx, equilibrates with external pressure and transmits the ear drum vibrations to the inner ear.
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Murmur: A sound due to vibrations from the flow of blood through the heart or great vessels. A murmur may be innocent and be of no significance. Or it may be pathologic and reflect disease. A murmur is usually heard with a stethoscope.

Neck: The part of the body joining the head to the shoulders. Also, any narrow or constricted part of a bone or organ that joins its parts as, for example, the neck of the femur bone.
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Nose: The external midline projection from the face.
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Osteoporosis: Thinning of the bones with reduction in bone mass due to depletion of calcium and bone protein . Osteoporosis predisposes a person to fractures, which are often slow to heal and heal poorly. It is more common in older adults, particularly post-menopausal women; in patients on steroids; and in those who take steroidal drugs. Unchecked osteoporosis can lead to changes in posture , physical abnormality (particularly the form of hunched back known colloquially as " dowager's hump "), and decreased mobility.
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Ovarian: Of or pertaining to the ovary.

Pediatric: Pertaining to children.

Pregnancy : The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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Prenatal: Occurring or existing before birth.
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Progesterone: A female hormone and the principal progestational hormone that is made mainly by the corpus luteum in the ovary and by the placenta. Progesterone prepares the lining (endometrium) of the uterus (the womb) to receive and sustain the fertilized egg and so permits pregnancy. Similarly refers to synthetic versions of the hormone. Also known as progestational hormone.

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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Random: The process by which an outcome is determined solely by chance, for example, by a coin flip.
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Recurrent: Back again. A recurrent fever is a fever that has returned after an intermission: a recrudescent fever.

Scoliosis: Sideways ( lateral ) curving of the spine (the backbone ).
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Skeletal: Pertaining to the skeleton, the bones of the body which collectively provide the framework for the body.

Sperm: A sperm is the male "gamete" or sex cell. It combines with the female "gamete," called an ovum, to form a zygote. The formation process is called "fertilization." (see ovum, zygote).

Spine: 1) The column of bone known as the vertebral column, which surrounds and protects the spinal cord. The spine can be categorized according to level of the body: i.e., cervical spine (neck), thoracic spine (upper and middle back), and lumbar spine (lower back). See also vertebral column. 2) Any short prominence of bone. The spines of the vertebrae protrude at the base of the back of the neck and in the middle of the back. These spines protect the spinal cord from injury from behind.

Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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Symptom: Any subjective evidence of disease. Anxiety, lower back pain, and fatigue are all symptoms. They are sensations only the patient can perceive. In contrast, a sign is objective evidence of disease. A bloody nose is a sign. It is evident to the patient, doctor, nurse and other observers.

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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Therapy: The treatment of disease .
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Throat: The throat is the anterior (front) portion of the neck beginning at the back of the mouth , consisting anatomically of the pharynx and larynx . The throat contains the trachea and a portion of the esophagus .
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Thyroid: 1. The thyroid gland . Also, pertaining to the thyroid gland. 2. A preparation of the thyroid gland used to treat hypothyroidism . 3. Shaped like a shield. (The thyroid gland was so-named by Thomas Wharton in 1656 because it was shaped like an ancient Greek shield.)
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Thyroid gland: A gland that makes and stores hormones that help regulate the heart rate, blood pressure, body temperature, and the rate at which food is converted into energy. Thyroid hormones are essential for the function of every cell in the body. They help regulate growth and the rate of chemical reactions ( metabolism ) in the body. Thyroid hormones also help children grow and develop.
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Turner syndrome: A chromosome disorder in females that is characterized by the absence of all or part of a second sex chromosome in some or all cells. The condition occurs in 1 in 2,500 to 3,000 girls born.
See the entire definition of Turner syndrome

Ultrasound: High-frequency sound waves. Ultrasound waves can be bounced off of tissues using special devices. The echoes are then converted into a picture called a sonogram. Ultrasound imaging, referred to as ultrasonography, allows physicians and patients to get an inside view of soft tissues and body cavities, without using invasive techniques. Ultrasound is often used to examine a fetus during pregnancy. There is no convincing evidence for any danger from ultrasound during pregnancy.

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Vagina: The muscular canal extending from the cervix to the outside of the body. It is usually six to seven inches in length, and its walls are lined with mucus membrane . It includes two vaultlike structures, the anterior (front) vaginal fornix and the posterior (rear) vaginal fornix . The cervix protrudes slightly into the vagina, and it is through a tiny hole in the cervix (the os) that sperm make their way toward the internal reproductive organs. The vagina also includes numerous tiny glands that make vaginal secretions.
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Vessel: A tube in the body that carries fluids: blood vessels or lymph vessels.

Womb: The womb (uterus) is a hollow, pear-shaped organ located in a woman's lower abdomen between the bladder and the rectum. The narrow, lower portion of the uterus is the cervix; the broader, upper part is the corpus. The corpus is made up of two layers of tissue.


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X chromosome: A sex chromosome found in both females and males. Normal females usually have two X chromosomes. Normal males usually have one X along with a Y chromosome . The complete chromosome complement consisting of 46 chromosomes is conventionally written as 46,XX for females and 46,XY for males.
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Y chromosome: The sex chromosome found together with an X chromosome in most normal males. Once thought to be a genetic wasteland, the Y now is known to contain at least 20 genes, some of them unique to the Y including the male-determining gene and male fitness genes that are active only in the testis and are thought responsible for the formation of sperm. Other genes on the Y have counterparts on the X chromosome, are active in many body tissues and play crucial "housekeeping" roles with the cell.
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 Turner Syndrome Main Article |  Glossary |  Turner Syndrome Index 




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