Glossary of Genetic Terminology

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F

FAMILIAL:
A characteristic or condition which tends to run in families.

FAMILIAL HYPERCHOLESTEROLAEMIA (FH):
An inherited tendency to have high cholesterol, which may lead to coronary artery disease (see Genetics Fact Sheet 53).

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY (FHCM):
A condition in which part of the heart muscle surrounding the ventricles (lower chambers) - in particular the left - is thicker than normal. This may cause problems such as palpitations, breathlessness and chest pain, but some people are symptom-free. There may be a genetic component to the condition (see Genetics Fact Sheet 54).

FAMILY HISTORY:
A record of the health conditions of different members within a family, across generations. It may be recorded as a list or as a pedigree that identifies the structure and relationship within the family. It provides a view of conditions or illnesses within a family to allow for analysis of inheritance patterns.

FAULTY GENE:
A gene that is not working or functioning properly.

FERTILISATION:
The joining of an egg and sperm at conception to create an embryo.

FOETAL BLOOD SAMPLING:
A prenatal diagnostic technique where a blood sample is obtained from the foetus.

FOETOSCOPY:
A prenatal diagnosis technique where the foetus and the inside of the uterus (womb) can be directly visualised.

FOETUS:
In humans, the product of conception after the end of the eighth week of pregnancy to the moment of birth.

FOLATE:
Folate, or folic acid, is a form of water-soluble B-group vitamins that is important in preventing neural tube defects (NTDs) in the developing baby during pregnancy.

FRAGILE SITE:
A small break or a constriction of a chromosome that can be visualised after special treatment of the chromosomes. In individuals affected with Fragile X syndrome, a fragile site can often be seen on their X chromosome (see Genetics Fact Sheet 42).

FRAGILE X SYNDROME:
A genetic condition usually affecting boys. It is characterised by particular physical features, varying degrees of learning difficulties and behavioural and emotional problems (see Genetics Fact Sheet 42).

FRATERNAL TWINS:
Please see 'dizygotic twins'.