Genetic and Medical Glossary

the abbreviation for thymine, a pyrimidine nitrogenous base found in the structure of DNA; in RNA, thymine is replaced by uracil

sequence of two or more DNA base pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome

abnormally increased distance between the medial canthi (corners of the eye) of the eyelids

a chromosome with a centromere at the end; also called an acrocentric chromosome

the ends of a eukaryotic chromosome

type of germ cell tumor that may contain several different types of tissue and sometimes mature elements such as hair, muscle, and bone

deletion that occurs towards the end of a chromosome

the combination of four different heart defects: ventricular septal defect (VSD), pulmonary stenosis (obstructed outflow of blood from the right ventricle to the lungs), dextroposition or overriding aorta (displaced aorta, causing blood to flow into the aorta from both right and left ventricles); and right ventricular hypertrophy (abnormal enlargement of the right ventricle)

four copies of a particular chromosome present in a cell, resulting in 48 chromosomes in the cell instead of the usual 46

fleshy mass of the outer side of the palm of the hand

low blood platelet count

absence of both phalanges of a thumb and the associated soft tissues

in the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger

thumb with three phalanges in a single, proximodistal axis

pyrimidine nitrogenous base found in the structure of DNA; in RNA, thymine is replaced by uracil

tongue with a median apical indentation or fork; may be associated with ankyloglossia

increased length and width of the tongue; leads to protrusion of the tongue

erupted tooth or teeth at birth

extra tooth or teeth

autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations; abnormalities in the feet, heart and kidneys also occur frequently. Townes-Brocks syndrome is associated with a mutation in the SALL1 gene located on the long arm of chromosome 16 at 16q12.1

birth defect in which the trachea is connected to the esophagus

phenotypic characteristic that can be inherited

cellular process by which genetic information in the form of a gene in a DNA molecule is converted into the form of a messenger RNA (mRNA) molecule

type of RNA molecule necessary for translation to occur properly; provides the basis of the genetic code, in which codons in a messenger RNA (mRNA) molecule are used to direct the sequence of amino acids in a polypeptide; contains a binding site for a particular amino acid and a region complementary to a messenger RNA (mRNA) codon (an anticodon)

DNA mutation in which one pyrimidine (cytosine or thymine) takes the place of another, or a purine (adenine or guanine) takes the place of another

cellular process by which genetic information in the form of a messenger RNA (mRNA) molecule is converted into the amino acid sequence of a protein, using ribosomes and RNA molecules as accessory molecules

movement of a chromosome segment to a nonhomologous chromosome as a result of an error in recombination

birth defect in which the two major vessels that carry blood away from the heart the aorta and the pulmonary artery are switched (transposed)

partial or complete absence of a part of one or more limbs in the absence of other abnormalities

genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes

Wedge-shaped or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput, assessed from above

possessing three complete sets of chromosomes

genetic condition involving one chromosome of a homologous chromosome pair that has been duplicated in some way, giving rise to a 2N + 1 genotype and causing serious phenotypic abnormalities; well-known trisomies are Trisomy 13, 18, and 21

see Patau syndrome

see Edwards syndrome

see Down syndrome

congenital heart defect in which there is a single main blood vessel carrying blood away from the heart which then branches into other blood vessels; with no pulmonary artery to carry blood to the lungs, and aorta blood from both ventricles of the heart is mixed, resulting in some oxygen-rich blood travelling back to the lungs and some oxygen-poor blood travelling to the rest of the body

genetic multisystem disorder characterized by episodes of uncontrolled electrical activity in the brain (seizures), intellectual impairment, distinctive skin abnormalities (lesions), and benign (noncancerous), tumor-like nodules (hamartomas) that appear in the brain, certain regions of the eyes (e.g., retinas), the heart, the kidneys, the lungs, or other tissues or organs; caused by mutations of either the TSC1 gene located on the long arm (q) of chromosome 9 at 9q34 or the TSC2 gene located on the short arm (p) of chromosome 16 at 16p13

a human genetic defect in which a female has only forty-five chromosomes and is lacking a second X sex chromosome; abnormalities such as sterility and anatomical defects are common

tall head relative to width and length; head length and width are reduced compared to normal age-related standards