Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines

Genetics in Medicine

Volumn 10, Issue 11, 2008, Pages 845-847

  Kronquist, Kathryn E ^a   Sherman, Stephanie L ^b   Spector, Elaine B ^c  

^a KAISER PERMANENTE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE DETECTION; LETTER; PRACTICE GUIDELINE; TRINUCLEOTIDE REPEAT;

EID: 57449090215     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31818c2606     Document Type: Letter

References (10)

1. 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.
2. Spector EB, Kronquist KE. Fragile X: technical standards and guidelines. ACMG standards and guidelines for clinical genetics laboratories, 2005. Available at: www.acmg.net.
3. Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005;7:584-587.
4. ACOG committee opinion No. 338: Screening for Fragile X syndrome. Obstet Gynecol 2006;107:1483-1485.
5. Wittenberger MD, Hagerman RJ, Sherman SL, et al. The FMR1 premutation and reproduction. Fertil Steril 2007;87:456-465.
6. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004;74:805-816.
7. Nolin SL, Brown WT, Glicksman A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003;72:454-464.
8. Jacquemont S, Leehey MA, Hagerman RJ, et al. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 2006;43:804-809.
9. Ennis S, Ward D, Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet 2006;14:253-255.
10. Sherman SL, Taylor K, Allen EG. FMR1 premutation: a leading cause of inherited ovarian dysfunction. In: Arrieta I, Penagarikano O, et al., editors. Fragile sites: new discoveries and changing perspectives. Hauppauge: Nova Science Publishers, Inc., 2007:229-320.