Genetic and Medical Glossary

genetic disorder with evident genetic anomolies, including distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness; four types are known and thought to be caused by mutations in EDN3, EDNRB, MITF, PAX3 and SOX10 genes; gene responsible for WS1 is the "PAX3" gene located on the long arm (q) of chromosome 2 at 2q35

11p deletion syndrome; acronym for Wilms' Tumor (W), aniridia (A), genitourinary abnormalities (G), mental retardation/intellectual disability (R)

neck that appears to be unusually broad because of bilateral folds of skin extending from the clavicles to the head but containing no muscles, bones, or other structures

mode of identifying those variants found in the coding region of genes which affect protein function

laboratory process that determines the complete DNA sequence of an organism's genome at a single time

interacting with more than one messenger RNA (mRNA) codon by virtue of the inherent flexibility present in the third base of the anticodon; refers to the phenotype of the typical form of a species as it occurs in nature

autosomal dominant chromosomal disorder characterized by intellectual disability, unique personality characteristics, unusual facial features, cardiovascular disease .and high level of calcium in blood (hypercalcemia) and urine (hypercalciuria); caused by deletion on chromosome 7 at band 7q11 and includes the ELN (elastic) gene

a type of malignant tumor of the kidney that occurs in young children

chromosomal disorder characterized by distinctive facial appearance, delayed growth and development, intellectual disability, and seizures and caused by deletions near the end of the short (p) arm of chromosome 4 which include the genes WHSC1, LETM1, and MSX1

abnormality in the electrical functioning of the heart which may cause rapid heart rates; affects the electrical signal between the atria and ventricles