Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines
- PMID: 18941415
- PMCID: PMC3111547
- DOI: 10.1097/GIM.0b013e31818b0c8a
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines
Comment on
-
Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.Genet Med. 2001 May-Jun;3(3):200-5. doi: 10.1097/00125817-200105000-00010. Genet Med. 2001. PMID: 11388762 Free PMC article.
-
Fragile X syndrome: diagnostic and carrier testing.Genet Med. 2005 Oct;7(8):584-7. doi: 10.1097/01.gim.0000182468.22666.dd. Genet Med. 2005. PMID: 16247297 Free PMC article.
References
-
- Maddalena A, Richards CS, McGinniss MJ, et al. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med. 2001;3:200–205. - PMC - PubMed
-
- Spector EB, Kronquist KE. Fragile X: technical standards and guidelines. ACMG standards and guidelines for clinical genetics laboratories. 2005. Available at: www.acmg.net.
-
- ACOG committee opinion No. 338: Screening for Fragile X syndrome. Obstet Gynecol. 2006;107:1483–1485. - PubMed
-
- Wittenberger MD, Hagerman RJ, Sherman SL, et al. The FMR1 premutation and reproduction. Fertil Steril. 2007;87:456–465. - PubMed
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
