Genetic and Medical Glossary

No identifiable superior and/or inferior lacrimal punctum (tear ducts)

genetic condition that causes bone abnormalities (exostoses, short stature and cone-shaped ends of the long bones) and distinctive facial features (sparse scalp hair, rounded nose, long flat philtrum, and thin upper lip); caused by at least two genes on chromosome 8

white pupillary reflex in which the pupil looks white instead of red when a bright light is shone it; occurs with congenital cataracts

abnormally low number of white blood cells (leukocytes) in the blood circulation

a cloned collection of DNA created from a specific organism

see X-inactivation

common benign tumor usually found in the fatty layer of the skin

smooth brain; brain malformation characterized by absence (agyria) or incomplete development (pachygyria) of the ridges or convolutions (gyri) of the outer region of the brain (cerebral cortex); occurs as an isolated abnormality or in association with certain underlying syndromes (eg, Miller-Dieker syndrome)

the specific location of a particular gene on a chromosome

increased inward curving of the lumbar spine

gene product having less or no function. When the allele has a complete loss of function (null allele) it is often called an amorphic mutation. Phenotypes associated with such mutations are most often recessive

upper insertion of the ear to the scalp below an imaginary horizontal line passing through the inner canthi and extending that line posteriorly to the ear

condition in which excess fluid collects in tissue and causes swelling