Genetic disorders glossaries and terms

Gene dosage

Health care; Genetic disorders

The number of copies of a given gene present in a cell or nucleus. An increase in gene dosage can result in the formation of higher levels of gene product, provided that the gene is not subject to ...

Hemangioblastoma

Health care; Genetic disorders

1) A benign tumour of the nervous system that may occur sporadically or in association with Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in ...

Angioblastoma

Health care; Genetic disorders

1) A benign tumour of the nervous system that may occur sporadically or in association with Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in ...

Genomic instability

Health care; Genetic disorders

1) A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms ...

Genome instability

Health care; Genetic disorders

1) A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms ...

Angiomyxoma

Health care; Genetic disorders

1) A benign neoplasm derived from connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix, thereby resembling primitive mesenchymal ...

Birth defect

Health care; Genetic disorders

1) A birth defect is an abnormality present at birth. Also called a congenital defect, it can be caused by a genetic mutation, an unfavourable environment during pregnancy, or a combination of both. ...

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