Prader-Willi Syndrome Glossary of Terms

Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane .
See the entire definition of Cell

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 .
See the entire definition of Childhood

Chromosome: A visible carrier of the genetic information.
See the entire definition of Chromosome

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.
See the entire definition of Chromosomes

Chronic: This important term in medicine comes from the Greek chronos, time and means lasting a long time.
See the entire definition of Chronic

Condition: The term "condition" has a number of biomedical meanings including the following:

1. An unhealthy state, such as in "this is a progressive condition."
2. A state of fitness, such as "getting into condition."
3. Something that is essential to the occurrence of something else; essentially a "precondition."
4. As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Contiguous gene syndrome: A disorder due to deletion of multiple gene loci that are adjacent to one another. Contiguous gene syndromes are characterized by multiple, apparently unrelated, clinical features caused by deletion of the multiple adjacent genes. Each of the individual genes within a contiguous region, when mutated, gives rise to a distinct feature.
See the entire definition of Contiguous gene syndrome

Deletion: Loss of a segment of DNA from a chromosome (and hence from the genome ).
See the entire definition of Deletion

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.)
See the entire definition of DNA

Father: (1) The male parent. (2) One who originates. For example, "Wilhelm Roentgen is considered the father of radiology." (3) To produce offspring as a male. (4) To provide paternal protection and guidance to children.

Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
See the entire definition of Gene

Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
See the entire definition of Genes

Genetic: Having to do with genes and genetic information.

Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
See the entire definition of Genetics

Genomic: Pertaining to the genome, all of the genetic information possessed by any organism.
See the entire definition of Genomic

Genomic imprinting: The phenomenon of parent-of-origin gene expression. The expression of a gene depends upon the parent who passed on the gene.
See the entire definition of Genomic imprinting

Hypogonadism: A condition in which decreased production of gonadal hormones leads to below-normal function of the gonads and to retardation of sexual growth and development. (The gonads are the ovaries and testes and the hormones they normally produce include estrogen, progesterone, and testosterone.)

Hypotonia: Decreased tone of skeletal muscles. In a word, floppiness. Hypotonia is a common finding in cerebral palsy and other neuromuscular disorders. Untreated hypotonia can lead to hip dislocation and other problems. Treatment is via physical therapy. In some cases braces may be needed to permit a full range of movement despite hypotonia.

Infertile: Not able to conceive after a year of regular intercourse without contraception.
See the entire definition of Infertile

Learning disability : A childhood disorder characterized by difficulty with certain skills such as reading or writing in individuals with normal intelligence. Learning disorders affect the ability to interpret what one sees and hears or the ability to link information from different parts of the brain . These limitations can show up in many ways -- as specific difficulties with spoken and written language, coordination, self-control, or attention. Such difficulties extend to schoolwork and can impede learning to read or write, or to do math.
See the entire definition of Learning disability

Maternal: 1. Pertaining to the mother as, for example, the maternal mortality rate. 2. Related through the mother as, for example, the maternal grandparents. 3. Inherited from the mother as, for example, the maternal X chromosome.

Mental retardation: A term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As many as 3 out of every 100 people have mental retardation. In fact, 1 out of every 10 children who need special education has some form of mental retardation.
See the entire definition of Mental retardation

Muscle: Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body. Muscle which is responsible for moving extremities and external areas of the body is called "skeletal muscle." Heart muscle is called "cardiac muscle." Muscle that is in the walls of arteries and bowel is called "smooth muscle."

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.
See the entire definition of Mutation

NIH: The National Institutes of Health. The NIH is an important U.S. health agency. It is devoted to medical research. Administratively under the Department of Health and Human Services (HHS), the NIH consists of 20-some separate Institutes and Centers. NIH's program activities are represented by these Institutes and Centers.
See the entire definition of NIH

Obesity: The state of being well above one's normal weight.
See the entire definition of Obesity

Paternal: 1. Pertaining to the father as, for example, a paternal age effect.
2. Related through the father as, for example, the paternal grandparents.
3. Inherited from the father as, for example, the paternal X chromosome.

Pigmentation: The coloring of the skin, hair, mucous membranes, and retina of the eye.
See the entire definition of Pigmentation

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.
See the entire definition of Protein

Random: The process by which an outcome is determined solely by chance, for example, by a coin flip.
See the entire definition of Random

Reproductive cells: The eggs and sperm are the reproductive cells. Each mature reproductive cell is haploid in that it has a single set of 23 chromosomes containing half the usual amount of DNA.
See the entire definition of Reproductive cells

Sign: Any objective evidence of disease. Gross blood in the stool is a sign of disease. It can be recognized by the patient, doctor, nurse, or others. In contrast, a symptom is, by its nature, subjective. Abdominal pain is a symptom. It is something only the patient can know.
See the entire definition of Sign

Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.

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.
See the entire definition of Syndrome

From the Doctors at MedicineNet.com

Obesity - Medical explanation produced by doctors regarding obesity and being overweight; includes health risks, causes, factors associated with, diagnosis, surgical and non-surgical treatments, medications, and review of popular weight loss diets. Source:MedicineNet Learning Disability - Learning disability information inclduing definition, symptoms, causes, treatment Source:Psychology Today Genetic Disease - Learn about genetic disease caused by abnormalities in an individual's genome. There are four types of genetic inheritance, single, multifactoral, chromosome abnormalities, and mitochondrial inheritance. Genetic testing is available for some genetic diseases. Source:MedicineNet Read 4 more Prader-Willi Syndrome related articles ... So Much to Do, So Little Sleep Head Injuries All Too Common in Summer Play Health Tip: The Word on Wisdom Teeth Health Tip: Make Exercise a Daily Habit New Source of Heart Stem Cells Found Health Highlights: June 23, 2008 Poorer Patients Have Poorer Survival After Cancer Diagnosis One Gene May Be Key to Myeloma Crocodile Babies Cry Out for Hatching Immune Molecule Key to Preventing Organ Rejection