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Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
MELAS syndrome. MELAS (M itochondrial E ncephalopathy, L actic A cidosis, and S troke -like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. [2]
1 in 10,000 - 15,000. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated. Three variants are known to exist ...
Gerstmann–Sträussler–Scheinker syndrome. A person with inherited prion disease has cerebellar atrophy. This is quite typical of GSS. difficulty speaking, developing dementia, memory loss, vision loss. Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, always fatal (due to it being caused by prions) neurodegenerative ...
Haemophilia figured prominently in the history of European royalty in the 19th and 20th centuries. Queen Victoria and her husband, Prince Albert, of the United Kingdom, through two of their five daughters – Princess Alice and Princess Beatrice – passed the mutation to various royal houses across the continent, including the royal families ...
The exact cause of Tourette's is unknown, but it is well established that both genetic and environmental factors are involved. [7] [8] [9] Genetic epidemiology studies have shown that Tourette's is highly heritable, [10] and 10 to 100 times more likely to be found among close family members than in the general population. [11]
Tuberous sclerosis. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.