Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ). See the entire definition of Abnormal
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. See the entire definition of Autosomal
Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease.
Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene. See the entire definition of Autosomal recessive
Biopsy: The removal of a sample of tissue for purposes of diagnosis. (Many definitions of "biopsy" stipulate that the sample of tissue is removed for examination under a microscope. This may or may not be the case. The diagnosis may be achieved by other means such as by analysis of chromosomes or genes.) See the entire definition of Biopsy
Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.
Bowel: Another name for the intestine . The small bowel and the large bowel are the small intestine and large intestine , respectively. See the entire definition of Bowel
Clinical:1. Having to do with the examination and treatment of patients. 2. Applicable to patients. A laboratory test may be of clinical value (of use to patients). See the entire definition of Clinical
Clubfoot: A common malformation of the foot that is evident at birth. The foot is turned in sharply so that the person seems to be walking on their ankle. The medical term for the common ("classic") type of clubfoot is talipes equinovarus. Clubfoot can sometimes, but not always, be corrected with a combination of surgery, bracing, and physical therapy. When it cannot be fully corrected, special shoes and braces are available to help the person achieve a more comfortable gait and avoid stressing and deforming other muscles and bones. See the entire definition of Clubfoot
Collagen: Collagen is the principal protein of the skin, tendons, cartilage, bone and connective tissue.
Connective tissue: A material made up of fibers forming a framework and support structure for body tissues and organs. Connective tissue surrounds many organs. Cartilage and bone are specialized forms of connective tissue. All connective tissue is derived from mesoderm, the middle germ cell layer in the embryo.
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. See the entire definition of Diagnosis
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). See the entire definition of Dominant
Ehlers-Danlos syndrome : A heritable disorder of connective tissue with easy bruising, joint hypermobility (loose joints), skin laxity, and weakness of tissues. There are a number of different types of Ehlers-Danlos syndrome (EDS) which share the foregoing features but can be categorized into at least nine different types: See the entire definition of Ehlers-Danlos syndrome
Family:1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Family history: The family structure and relationships within the family, including information about diseases in family members. See the entire definition of Family history
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.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child. See the entire definition of Inheritance
Injury: Harm or hurt. The term "injury" may be applied in medicine to damage inflicted upon oneself as in a hamstring injury or by an external agent on as in a cold injury. The injury may be accidental or deliberate, as with a needlestick injury. The term "injury" may be synonymous (depending on the context) with a wound or with trauma.
Joint: A joint is the area where two bones are attached for the purpose of motion of body parts. A joint is usually formed of fibrous connective tissue and cartilage. An articulation or an arthrosis is the same as a joint. See the entire definition of Joint
Kyphoscoliosis: Combination of kyphosis and scoliosis (lateral curving of the spine). Part of good health maintenance is to check a child's back (from infancy through adolescence) to make sure the back looks normal and, if concerned, a doctor is consulted. See the entire definition of Kyphoscoliosis
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."
Offspring: The offspring are strictly speaking the progeny, or young, born to a person. See the entire definition of Offspring
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
Proteins: Large molecules 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 Proteins
Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers. See the entire definition of Recessive
Rupture: A break or tear in any organ (such as the spleen) or soft tissue (such as the achilles tendon). Rupture of the appendix is more likely among uninsured and minority children when they develop appendicitis.
Scoliosis: Sideways ( lateral ) curving of the spine (the backbone ). See the entire definition of Scoliosis
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.
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.
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
Tissue: A tissue in medicine is not like a piece of tissue paper. It is a broad term that is applied to any group of cells that perform specific functions. A tissue in medicine need not form a layer. Thus,
The bone marrow is a tissue;
Connective tissue consists of cells that make up fibers in the framework supporting other body tissues; and
Lymphoid tissue is the part of the body's immune system that helps protect it from bacteria and other foreign entities.
Trait: In genetics, a trait refers to any genetically determined characteristic. In technical terms, a genetic trait is amenable to segregation analysis rather than quantitative analysis. See the entire definition of Trait
Trauma: Any injury , whether physically or emotionally inflicted. "Trauma" has both a medical and a psychiatric definition. Medically, "trauma" refers to a serious or critical bodily injury, wound, or shock . This definition is often associated with trauma medicine practiced in emergency rooms and represents a popular view of the term. In psychiatry , "trauma" has assumed a different meaning and refers to an experience that is emotionally painful, distressful, or shocking, which often results in lasting mental and physical effects. See the entire definition of Trauma
Vascular: Relating to the blood vessels of the body. The blood vessels of the body, as a group, are referred to as the vascular system. See the entire definition of Vascular
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What are genetic professionals and what do they do?
Genetics professionals are health care professionals with specialized degrees
and experience in medical genetics and counseling. Genetics professionals
include geneticists, genetic counselors and genetics nurses.
What is genetic counseling and evaluation?
Genetic professionals work as members of health care teams providing
information and support to individuals or families who have genetic disorders or
may be at risk for inherited conditions. Genetic professionals:
Assess the risk of a genetic disorder by researching a family's history and
evaluating medical records.
Weigh the medical, social and ethical decisions surrounding genetic
testing.
Provide support and information to help a person make a decision about
testing.
Interpret the results of genetic tests and medical data.
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