Genetics and Molecular Medicine Terms

A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso.

Packaging is the point, since the DNA in one cell would stretch about two meters and chromosomes fold it to fit inside a nucleus.

A rare inherited disorder of DNA repair marked by failure to grow, sun sensitivity and a progressive loss of skills.

An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections).

An inherited condition that scatters benign growths through many organs and raises the lifetime risk of several cancers.

An inherited disorder marked by the formation of many noncancerous growths called hamartomas.

An anticancer drug that interferes with the DNA in cancer cells.

A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus.

The study of chromosomes and chromosomal abnormalities.

Written as C in a sequence, it always sits opposite G, and it carries the chemical tag that can quiet a gene.

A substance that blocks the process cells use to repair DNA.

The body has no way to excrete surplus iron, so anyone transfused repeatedly needs a drug to carry it out for them.

The full chemical name of DNA, and it is descriptive: a sugar missing an oxygen, a nucleus, and an acid.

Two meters of it are packed into a cell too small to see, arranged so any short stretch can still be found and read.

A process that allows thousands of pieces of DNA that are fixed to a glass slide to be analyzed at one time.

The enzyme that writes chemical tags onto DNA, and then copies that pattern into every new cell.

An enzyme (a protein that speeds up chemical reactions in the body) that attaches a methyl group to DNA.

DNA replication is the cellular process that copies a cell's entire DNA sequence before it divides into two daughter cells.

A disorder caused by the presence of an extra chromosome 21 and characterized by intellectual disability and distinguishing physical features.

It runs through families on a single dominant gene, yet a sizeable share of cases begin with a brand new mutation.