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Glossary of terms used on this site

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Term Definition

You may have a blood test to look for a chemical called CA125 in the blood.This chemical is produced by some ovarian cancer cells and a raised level of CA125 in the blood may mean you have ovarian cancer.

Café au lait marks

Coffee-coloured birthmarks (known as café-au-lait spots or marks) on the skin are one of the first signs of NF1.

Cardiac rehabilitation

The process by which a person who is suffering from ischaemic heart disease, or who has had a myocardial infarction is encouraged to achieve their full potential in terms of physical and psychological health.


Someone who looks after a friend, relative or neighbour who needs support because of their sickness, age or disability. The term "carer" is used to distinguish those who provide care for others on an unpaid basis, apart from those who are paid (e.g. care workers and home helps).


(1) A healthy person who has one normal and one altered form of the same gene - called a heterozygote.

Carrier screening

The term "carrier screening" is used for testing members of a population to detect healthy carriers of an inherited disorder - for instance testing all pregnant mothers for carrier status for sickle cell disease.

Carrier testing

Carrier detection, heterozygote testing. Testing used to identify individuals who are usually asymptomatic, but who have a gene mutation for an autosomal recessive or X-linked recessive disorder, or a balanced structural rearrangement of their chromosomes.

Cascade testing

Cascade testing or screening is a mechanism for identifying people at risk of a genetic condition.

Cascade testing

Cascade testing or screening is a mechanism for identifying people at risk of a genetic condition.

Cat Eye syndrome

Cat Eye Syndrome is a very rare malformation involving Chromosome 22. The short arm (p) and a small section of the long arm (q) are present three or four times instead of the usual two times.

CAT scan

CT (or CAT) scan stands for computerised (axial) tomography scan. The scan uses X-rays and a computer to create detailed images of the inside of your body.


Cellulitis is a bacterial infection of the deep layer of skin (dermis) and the layer of fat and soft tissues (the subcutaneous tissues) that lie underneath the skin. The infection can make your skin red, swollen and painful.

cerebellar ataxia

The autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord.

cerebral arteriosclerosis

Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision.

Cerebral palsy

Cerebral palsy refers to any one of a number of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination but do not worsen over time. It is caused by abnormalities in parts of the brain that control muscle movements.

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