The following are health and medical definitions of terms that appear in the Noonan Syndrome article.
Atypical: Not typical, not usual, not normal, abnormal. Atypical is often used to refer to the appearance of precancerous or cancerous cells.
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.
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
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
Cryptorchidism: Failure of descent of one or both of the testes into the scrotum. The testes first develop within the abdomen before birth and then normally descend into the scrotum. Cryptorchidism is also called undescended testes. See the entire definition of Cryptorchidism
Developmental disorder: One of several disorders that interrupt normal development in childhood. They may affect a single area of development (specific developmental disorders) or several (pervasive developmental disorders). With early intervention, most specific developmental disorders can be accommodated and overcome. Early intervention is absolutely essential for pervasive developmental disorders, many of which will respond to an aggressive approach that may combine speech therapy, occupational therapy, physical therapy, behavior modification techniques, play therapy, and in some cases medication. See the entire definition of Developmental disorder
Differentiation:1 The process by which cells become progressively more specialized; a normal process through which cells mature. This process of specialization for the cell comes at the expense of its breadth of potential. Stem cells can, for example, differentiate into secretory cells in the intestine. 2 In cancer, differentiation refers to how mature (developed) the cancer cells are in a tumor. Differentiated tumor cells resemble normal cells and tend to grow and spread at a slower rate than undifferentiated or poorly differentiated tumor cells, which lack the structure and function of normal cells and grow uncontrollably.
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).
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
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. See the entire definition of Heart
Infertility: The diminished ability or the inability to conceive and have offspring. Infertility is also defined in specific terms as the failure to conceive after a year of regular intercourse without contraception. See the entire definition of Infertility
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.
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
Phenotype: The appearance of an individual, which results from the interaction of the person's genetic makeup and his or her environment. By contrast, the genotype is merely the genetic constitution (genome) of an individual. For example, if a child's genotype includes the gene for osteogenesis imperfecta (brittle bone disease), minimal trauma can cause fractures. The gene is the genotype, and the brittle bones themselves are the phenotype.
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
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). See the entire definition of Puberty
Skeletal: Pertaining to the skeleton, the bones of the body which collectively provide the framework for the body.
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
Testicles: The testicles (also called testes or gonads) are the male sex glands. They are located behind the penis in a pouch of skin called the scrotum. The testicles produce and store sperm, and they are also the body's main source of male hormones (testosterone). These hormones control the development of the reproductive organs and other male characteristics, such as body and facial hair, low voice, and wide shoulders.
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
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. See the entire definition of X chromosome
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Most often, caregivers take care of other adults who are ill or disabled. Less often, caregivers are grandparents raising their grandchildren. The majority of caregivers are middle-aged women. Caregiving can be very stressful, so it's important to recognize when it's putting to much strain on you and to take steps to prevent/relieve stress.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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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