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- Sherman_paradox abstract "The Sherman Paradox refers to an anomalous pattern of inheritance found in Fragile X syndrome. The phenomenon is also referred to as anticipation or dynamic mutation.The paradox is named after Stephanie Sherman, who studied the inheritance patterns of people with Fragile X syndrome. Sherman observed that the effects of Fragile X syndrome seemed to occur more frequently with each passing generation. This observation is now known as the Sherman Paradox.The paradox was ultimately explained by insights into the mutation process that gives rise to the syndrome. Sherman theorized that the gene responsible for Fragile X syndrome becomes mutated through a two-step process. The first mutation, called the 'premutation', doesn't cause any clinical symptoms. A second mutation was required to convert the 'premutation' into a 'full mutation' capable of causing the clinical symptoms associated with Fragile X syndrome. Additionally, premutations must pass through females in order to transform into the full mutation.The Fragile X syndrome is so named because of the appearance of the X chromosome in individuals with Fragile X. Under an electron microscope, a region on the long arm of the chromosome resembles a thin string. Investigation showed that this region consists of a CGG repeat triplet in both normal and diseased individuals. The difference between normal and diseased is the length of the repeat; the repeat is longer where Fragile X syndrome is present. When the length of the repeat surpasses a critical threshold, symptoms of the disorder appear and they increase in likelihood and severity with further length. Even below this threshold there is a range where the repeat becomes unstable during meiosis.In normal individuals, an insertion of extra CGGs is unlikely. However, as the length of the repeat increases, the probability of additional triplet insertions increases. When the expansion reaches the danger range, the carrier is still unaffected, but the risk of further mutation becomes significant. This is called the premutation range. Once the Fragile X syndrome emerges, symptoms worsen from generation to generation because of the self-promoting aspect of the mutation.".
- Sherman_paradox wikiPageExternalLink CH172.html.
- Sherman_paradox wikiPageExternalLink anticipationsherman.html.
- Sherman_paradox wikiPageID "2956658".
- Sherman_paradox wikiPageLength "3551".
- Sherman_paradox wikiPageOutDegree "19".
- Sherman_paradox wikiPageRevisionID "671970746".
- Sherman_paradox wikiPageWikiLink Autopsy.
- Sherman_paradox wikiPageWikiLink Category:Genetics.
- Sherman_paradox wikiPageWikiLink Category:Mutation.
- Sherman_paradox wikiPageWikiLink Category:Paradoxes.
- Sherman_paradox wikiPageWikiLink Dynamic_mutation.
- Sherman_paradox wikiPageWikiLink Electron_microscope.
- Sherman_paradox wikiPageWikiLink Fragile_X_syndrome.
- Sherman_paradox wikiPageWikiLink Gene.
- Sherman_paradox wikiPageWikiLink Generation.
- Sherman_paradox wikiPageWikiLink Heredity.
- Sherman_paradox wikiPageWikiLink Huntingtons_disease.
- Sherman_paradox wikiPageWikiLink Meiosis.
- Sherman_paradox wikiPageWikiLink Myotonic_dystrophy.
- Sherman_paradox wikiPageWikiLink Probability.
- Sherman_paradox wikiPageWikiLink Spinocerebellar_ataxia.
- Sherman_paradox wikiPageWikiLink Stephanie_Sherman.
- Sherman_paradox wikiPageWikiLink Striatum.
- Sherman_paradox wikiPageWikiLink Trinucleotide_repeat_disorder.
- Sherman_paradox wikiPageWikiLink X_chromosome.
- Sherman_paradox wikiPageWikiLinkText "Sherman paradox".
- Sherman_paradox subject Category:Genetics.
- Sherman_paradox subject Category:Mutation.
- Sherman_paradox subject Category:Paradoxes.
- Sherman_paradox type Concept.
- Sherman_paradox comment "The Sherman Paradox refers to an anomalous pattern of inheritance found in Fragile X syndrome. The phenomenon is also referred to as anticipation or dynamic mutation.The paradox is named after Stephanie Sherman, who studied the inheritance patterns of people with Fragile X syndrome. Sherman observed that the effects of Fragile X syndrome seemed to occur more frequently with each passing generation.".
- Sherman_paradox label "Sherman paradox".
- Sherman_paradox sameAs Q7495278.
- Sherman_paradox sameAs m.08g17d.
- Sherman_paradox sameAs Q7495278.
- Sherman_paradox wasDerivedFrom Sherman_paradox?oldid=671970746.
- Sherman_paradox isPrimaryTopicOf Sherman_paradox.