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DiGeorge Syndrome / 22q11.2 Deletion Syndrome / CATCH 22 Syndrome

DiGeorge Syndrome - Glossary


Glossary

Amniocentesis: A technique in which amniotic fluid is obtained by using a hollow needle inserted into the uterus.

Cleft Palate: A birth defect in which there is a split in the roof of the mouth.

Cyanosis: A bluish discoloration of the skin due to poor circulation or inadequate oxygenation of the blood.

ENT: A medical specialty that treats diseases of the Ear, Nose and Throat.

DNA: Deoxyribonucleic acid, a self-replicating material which is the main constituent of chromosomes and the carrier of genetic information.

Epicanthal Fold: A fold of skin of the upper eyelid that covers the inner corner of the eye and which runs from nose to the inner side of the eyebrow.

Philtrum: The vertical groove between the base of the nose and the border of the upper lip.

RNA: Ribonucleic acid, which acts as a messenger that carries instructions from DNA for controlling the synthesis of proteins.
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