Genetics Northern California


False negativeA test result in which an affected individual is incorrectly identified as being unaffected with the disease in question.
False positiveA test result in which an unaffected individual is incorrectly identified as being affected with the disease in question.

Characteristic of some or all members of a family.

Familial combined

This is an abnormality in cholesterol metabolism where the individual has either an elevated LDL cholesterol or an elevated triglyceride, or both. Some members in the family can have only the elevated LDL or only the elevated triglyceride, and some may have both abnormalities.

Familial dysautonomia

An autosomal recessive neurological disorder that affects the autonomic and sensory nervous systems beginning in infancy. There is a wide range of symptoms that can vary greatly between affected individuals. These symptoms include difficulty swallowing (which can lead to frequent pneumonia), lack of overflow tear production, inappropriate perception of heat, pain and taste, postural hypotension/episodic hypertension, gastrointestinal dysmotility, speech and motor incoordination, poor growth, scoliosis, and autonomic crisis (episodes of vomiting, high blood pressure, sweating, and fever). The average age of death is 30 years. There is no known cure for this condition. All confirmed cases of familial dysautonomia have been in individuals of Ashkenazi Jewish ancestry.

Familial hyperlipidemia

This is an abnormality in cholesterol metabolism where the individual has an elevated total cholesterol and an elevated LDL.

Family history

A diagram of genetic relationships and medical history in a family (also called a pedigree).

FAP (familial adenomatous polyposis)

An autosomal dominantly inherited predisposition to multiple adenomatous polyps of the colon and a high risk of colon cancer.

Fasting glucoseA measure of the level of sugar in the blood after fasting for 10-12 hours.
FatsA white or yellowish tissue which forms soft pads between various organs of the body or an ester of glycerol with fatty acids.
Fatty acid oxidation disordersA group of conditions in which fats (“fatty acids”) cannot be broken down (“oxidized”) because an enzyme is either missing or not working properly. The body needs to be able to oxidize fatty acids in order to make energy. If the body cannot do this, serious health problems can result. Fatty Acid Oxidation Disorders (FODs) include Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD), Long Chain Acyl CoA Dehydrogenase Deficiency (LCHAD), and Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCHAD), among others.

The way fatty acid oxidation disorders are inherited is called autosomal recessive.

FerritinAn iron-phosphorus protein complex containing about 23% iron. Ferritin is the form in which iron is stored in the tissues. Earliest sign of iron deficiency anemia is decreased ferritin.
FetalPertaining to the in utero development of a baby.
Fetal alcohol syndromeA group of birth defects occurring in infants born to mothers who consumed significant amounts of alcohol during the pregnancy. Birth defects can include mental retardation, heart defects, growth deficiency, and characteristic facial features (Dorland's).
FetusDescribes the baby in utero from seven to eight weeks post-conception until birth.
FiberThis material comes from different parts of plants and helps to control weight, reduce cholesterol, reduce blood sugar, give a full feeling to the individual, and may decrease the incidence of some cancers - i.e., wheat bread, beans, and broccoli.
FISH (fluorescence in situ hybridization)

A molecular cytogenetic technique in which labeled probes are hybridized with chromosomes and visualized under a fluorescence microscope. Can detect microdeletion syndromes, trisomies and other genetic conditions.

Folic acid

A vitamin that helps to prevent birth defects such as spina bifida and other neural tube defects in the newborn. Found in leafy green vegetables, liver, legumes, yeast, and some fruits. Important component of multivitamins and prenatal vitamins.

Frameshift mutation

A change in DNA in which a duplication or deletion occurs that is not a multiple of three base pairs.