Genetic Testing of Diseases - Glossary


Consanguineous marriage: Marriage among blood relatives

Spontaneous Abortions: Natural end of pregnancy before 20 weeks of gestation

Autosomes: Chromosomes other than the sex chromosomes (22 pairs)

Sex Chromosomes: The X and Y-chromosomes that determine the sex of an organism

Genetic Anomaly: Genetic abnormality

Cystic Fibrosis: Hereditary disease affecting the body that progressively debilitates and leads to an early death

Sickle cell anemia: Hereditary blood disorder resulting in the production of abnormally shaped RBCs

Sickle cell trait: Medically normal condition where a person has one normal gene and carries one copy of the sickle cell anemia gene.

Turner’s syndrome: Chromosomal condition that affects only girls and women

Klinefelter’s syndrome: Chromosomal condition that affects males

Down syndrome: A chromosomal disorder causing mental retardation and several other medical problems

DNA fingerprinting: studying the DNA sequences of an individual which are unique as a fingerprint

Phenylketoneuria: Genetic disorder which results in the body not being able to utilize the amino acid phenylalanine

Congenital hypothyroidism: Genetic condition found in the new borns that results in the abnormal development or function of the thyroid gland

Late- onset diseases: Diseases that show up at a later stage in life