Fragile X Syndrome
| Autor: | James A Phalen |
|---|---|
| Rok vydání: | 2005 |
| Předmět: | |
| Zdroj: | Pediatrics In Review. 26:181-182 |
| ISSN: | 1526-3347 0191-9601 |
| DOI: | 10.1542/pir.26.5.181 |
| Popis: | 1. James A. Phalen, MD 1. Major, MC, USAF Fragile X Syndrome: A Model of Gene-Brain-Behavior Relationships. Hagerman RJ, Hagerman PJ. Mol Gen Metab. 2001;74 :89– 97[OpenUrl][1][CrossRef][2][PubMed][3] Fragile X Syndrome: Diagnosis, Treatment, and Research. 3rd ed. Hagerman RJ, Hagerman PJ, eds. Baltimore, Md: Johns Hopkins University Press; 2002 Health Supervision for Children With Fragile X Syndrome. Committee on Genetics. Pediatrics. 1996;98 :297– 300[OpenUrl][4][Abstract/FREE Full Text][5] Fragile X syndrome (FXS) is the most common inherited cause of mental retardation, with a pattern of transmission that is not typical of X-linked disorders. Women who carry the fragile X chromosome have a surprisingly high risk of expressing some feature of the syndrome, and there are men who have the aberrant gene and are normal clinically. The fragile site at the distal end of the long arm of the X chromosome at position Xq27.3 was discovered in 1969, and the gene responsible for FXS—the fragile X mental retardation-1 ( FMR1 ) gene—was isolated in 1991. The normal FMR1 gene contains a segment that has 5 to 50 repeated CGG triplets. With the full mutation, there are more than 200 repeats. Men who have a gene that has an intermediate number of CGG repeats (50 to 200) are said to carry a “premutation”; they typically are normal, although they may have mild cognitive impairment. As … [1]: {openurl}?query=rft.jtitle%253DMolecular%2Bgenetics%2Band%2Bmetabolism%26rft.stitle%253DMol%2BGenet%2BMetab%26rft.aulast%253DHagerman%26rft.auinit1%253DR.%2BJ.%26rft.volume%253D74%26rft.issue%253D1-2%26rft.spage%253D89%26rft.epage%253D97%26rft.atitle%253DFragile%2BX%2Bsyndrome%253A%2Ba%2Bmodel%2Bof%2Bgene-brain-behavior%2Brelationships.%26rft_id%253Dinfo%253Adoi%252F10.1006%252Fmgme.2001.3225%26rft_id%253Dinfo%253Apmid%252F11592806%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [2]: /lookup/external-ref?access_num=10.1006/mgme.2001.3225&link_type=DOI [3]: /lookup/external-ref?access_num=11592806&link_type=MED&atom=%2Fpedsinreview%2F26%2F5%2F181.atom [4]: {openurl}?query=rft.jtitle%253DPediatrics%26rft.stitle%253DPediatrics%26rft.issn%253D0031-4005%26rft.aulast%253DCommittee%2Bon%2BGenetics%26rft.auinit1%253D%2B%26rft.volume%253D98%26rft.issue%253D2%26rft.spage%253D297%26rft.epage%253D300%26rft.atitle%253DHealth%2BSupervision%2Bfor%2BChildren%2BWith%2BFragile%2BX%2BSyndrome%26rft_id%253Dinfo%253Apmid%252F8692636%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [5]: /lookup/ijlink?linkType=ABST&journalCode=pediatrics&resid=98/2/297&atom=%2Fpedsinreview%2F26%2F5%2F181.atom |
| Databáze: | OpenAIRE |
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