Genetic heterogeneity

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Genetic heterogeneity
TermGenetic heterogeneity
Short definitiongenetic counselor (jeh-NEH-tik KOWN-seh-ler) A medical professional with specialized training in medical genetics and counseling. Genetic counselors help patients and families who have or are at risk of a genetic condition. 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


genetic heterogeneity - (pronounced) (jeh-NEH-tik HEH-teh-roh-jeh-NEE-ih-tee) A term used to describe when different gene mutations (changes) cause the same disease or condition . Genetic heterogeneity occurs when a single gene has different mutations (allelic heterogeneity) or when mutations are present in different genes (locus heterogeneity), and both cause the same disease or condition. For example, tuberous sclerosis (an inherited disease causing tumors in the kidneys, brain, eyes, heart, lungs and skin) is caused by mutations in a gene on chromosome 9 or chromosome 16

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