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Fragile X Syndrome
1: Fragile X Syndrom is a genetic disorder which occurs when a mutation takes place in the FMR1 gene, the FMR1 gene is normally involved in providing instructions for the synthesis of a protein that is called FMRP. This protein is present in many tissues including the brain, ovaries and also testes ADDIN ZOTERO_ITEM CSL_CITATION {"citationID":"MvF8uYKB","properties":{"formattedCitation":"({\\i{}Fragile X Syndrome - Genetics Home Reference - NIH})","plainCitation":"(Fragile X Syndrome - Genetics Home Reference - NIH)","noteIndex":0},"citationItems":[{"id":1428,"uris":["http://zotero.org/users/local/4C6u8dIT/items/M85K6RXQ"],"uri":["http://zotero.org/users/local/4C6u8dIT/items/M85K6RXQ"],"itemData":{"id":1428,"type":"webpage","title":"Fragile X syndrome - Genetics Home Reference - NIH","URL":"https://ghr.nlm.nih.gov/condition/fragile-x-syndrome","accessed":{"date-parts":[["2019",4,10]]}}}],"schema":"https://github.com/citation-style-language/schema/raw/master/csl-citation.json"} (Fragile X Syndrome - Genetics Home Reference - NIH).
2: The Fragile X Syndrome is inherited in an X-linked dominant pattern. X-linked dominant means that in women mutation in any one of the two copies of a gene is enough to cause the disorder ADDIN ZOTERO_ITEM CSL_CITATION {"citationID":"whbT7Isf","properties":{"formattedCitation":"({\\i{}Fragile X Syndrome - Genetics Home Reference - NIH})","plainCitation":"(Fragile X Syndrome - Genetics Home Reference - NIH)","noteIndex":0},"citationItems":[{"id":1428,"uris":["http://zotero.org/users/local/4C6u8dIT/items/M85K6RXQ"],"uri":["http://zotero.org/users/local/4C6u8dIT/items/M85K6RXQ"],"itemData":{"id":1428,"type":"webpage","title":"Fragile X syndrome - Genetics Home Reference - NIH","URL":"https://ghr.nlm.nih.gov/condition/fragile-x-syndrome","accessed":{"date-parts":[["2019",4,10]]}}}],"schema":"https://github.com/citation-style-language/schema/raw/master/csl-citation.json"} (Fragile X Syndrome - Genetics Home Reference - NIH).
3: There are various symptoms of fragile X syndrome including large, protruding ears, long face, hyperextensible thumbs, flats, soft skin and also flat feet.
4: Conservative estimates suggest that this particular syndrome can affect 1 in 2500-4000 males and 1 in 7000-8000 women. The prevalence of females carrier status is considered to be as high as 1 in 130-250 population and also the prevalence of men carries status is thought to be 1 in 250-800 population. As it is an X linked syndrome, therefore, there are chances that it can effect females more as compared to males ADDIN ZOTERO_ITEM CSL_CITATION {"citationID":"A177zCun","properties":{"formattedCitation":"({\\i{}Fragile X Syndrome: Practice Essentials, Background, Pathophysiology})","plainCitation":"(Fragile X Syndrome: Practice Essentials, Background, Pathophysiology)","noteIndex":0},"citationItems":[{"id":1430,"uris":["http://zotero.org/users/local/4C6u8dIT/items/DI7BVAV2"],"uri":["http://zotero.org/users/local/4C6u8dIT/items/DI7BVAV2"],"itemData":{"id":1430,"type":"webpage","title":"Fragile X Syndrome: Practice Essentials, Background, Pathophysiology","URL":"https://emedicine.medscape.com/article/943776-overview","accessed":{"date-parts":[["2019",4,10]]}}}],"schema":"https://github.com/citation-style-language/schema/raw/master/csl-citation.json"} (Fragile X Syndrome: Practice Essentials, Background, Pathophysiology).
Credit: U.S. National Library of Medicine
Work Cited
ADDIN ZOTERO_BIBL {"uncited":[],"omitted":[],"custom":[]} CSL_BIBLIOGRAPHY Fragile X Syndrome - Genetics Home Reference - NIH. https://ghr.nlm.nih.gov/condition/fragile-x-syndrome. Accessed 10 Apr. 2019.
Fragile X Syndrome: Practice Essentials, Background, Pathophysiology. https://emedicine.medscape.com/article/943776-overview. Accessed 10 Apr. 2019.
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