Fragile X syndrome epidemiology and demographics: Difference between revisions
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== Overview == | ==Overview== | ||
The prevalence of female | The [[prevalence]] of [[female]] [[Carrier|carrie]]<nowiki/>r status has been estimated to be as high as 1 in 130-250 [[population]]; the prevalence of [[male]] carrier status is estimated to be 1 in 250-800 population. However, disease manifestations are seen in lesser number of people. | ||
== Epidemiology and Demographics == | ==Epidemiology and Demographics== | ||
The fragile X syndrome has an estimated incidence of 1 in 3600 males and 1 in 4,000–6,000 females. <ref>Crawford, D.C.; Acuna, J.M. & Sherman, S.L. (2001) "FMR1 and the Fragile X syndrome: Human genome epidemiology review". ''Genet Med'' '''3''': 359-371</ref> | The [[fragile X syndrome]] has an estimated [[incidence]] of 1 in 3600 males and 1 in 4,000–6,000 females. <ref>Crawford, D.C.; Acuna, J.M. & Sherman, S.L. (2001) "FMR1 and the Fragile X syndrome: Human genome epidemiology review". ''Genet Med'' '''3''': 359-371</ref> | ||
The prevalence of Fragile X syndrome is approximately 1 in 5000 men and 1 in 4000-6000 women worldwide, determined by molecular assays. <ref name="pmid19804849">{{cite journal| author=Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL | display-authors=etal| title=Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. | journal=Am J Hum Genet | year= 2009 | volume= 85 | issue= 4 | pages= 503-14 | pmid=19804849 | doi=10.1016/j.ajhg.2009.09.007 | pmc=2756550 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19804849 }} </ref> | The [[prevalence]] of Fragile X syndrome is approximately 1 in 5000 men and 1 in 4000-6000 women worldwide, determined by [[Molecular Biology|molecular]] [[assays]]. <ref name="pmid19804849">{{cite journal| author=Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL | display-authors=etal| title=Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. | journal=Am J Hum Genet | year= 2009 | volume= 85 | issue= 4 | pages= 503-14 | pmid=19804849 | doi=10.1016/j.ajhg.2009.09.007 | pmc=2756550 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19804849 }} </ref> | ||
Fragile X Syndrome has been diagnosed in approximately 3 percent of boys with significant | Fragile X Syndrome has been diagnosed in approximately 3 percent of boys with significant [[Neurodevelopmental disorders|neurodevelopmenta]]<nowiki/>l [[disorders]]. <ref name="pmid16047089">{{cite journal| author=McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ| title=Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. | journal=J Genet Couns | year= 2005 | volume= 14 | issue= 4 | pages= 249-70 | pmid=16047089 | doi=10.1007/s10897-005-4802-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16047089 }} </ref> | ||
== References == | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The prevalence of female carrier status has been estimated to be as high as 1 in 130-250 population; the prevalence of male carrier status is estimated to be 1 in 250-800 population. However, disease manifestations are seen in lesser number of people.
Epidemiology and Demographics
The fragile X syndrome has an estimated incidence of 1 in 3600 males and 1 in 4,000–6,000 females. [1] The prevalence of Fragile X syndrome is approximately 1 in 5000 men and 1 in 4000-6000 women worldwide, determined by molecular assays. [2] Fragile X Syndrome has been diagnosed in approximately 3 percent of boys with significant neurodevelopmental disorders. [3]
References
- ↑ Crawford, D.C.; Acuna, J.M. & Sherman, S.L. (2001) "FMR1 and the Fragile X syndrome: Human genome epidemiology review". Genet Med 3: 359-371
- ↑ Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL; et al. (2009). "Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA". Am J Hum Genet. 85 (4): 503–14. doi:10.1016/j.ajhg.2009.09.007. PMC 2756550. PMID 19804849.
- ↑ McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ (2005). "Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors". J Genet Couns. 14 (4): 249–70. doi:10.1007/s10897-005-4802-x. PMID 16047089.