Cytogenetic fragile X identification using antagonists and different culture media

Christiane Eliza Motta Duarte, Carlos Roberto Carvalho

Keywords


Cytogenetics; Fluorodeoxyuridine; Fragile X Syndrome; Fragile site; Methotrexate

References


Monaghan KG, Lyon E, Spector EB. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013 Jul;15(7):575–586. PMID: 23765048.

Wang T, Bray SM, Warren ST. New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev 2012 Jun;22(3):256–263. PMID: 22382129.

Lubs HA. A marker X chromosome. Am J Hum Genet 1969 May;21(3):231–244. PMCID: PMC1706424.

Sutherland GR. Fragile site on human chromosomes: Demonstration of their dependence on the type of tissue culture medium. Science 1977 Jul;197(4300):265–266. PMID: 77551.

Jacky PB, Ahuja YR, Anyane-Yeboa K et al. Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. Am J Med Genet 1991 Feb-Mar;38(2-3):400–403. PMID: 2018080.

Krinski D, Fernandes A, Rocha MP. Cytogenetic Analysis: A New Era of Procedures and Precision. In Tirunilai P editors. Recent Trends in Cytogenetic Studies - Methodologies and Applications. InTech. 2012; 107-124.

Gersen SL, Downey L. Instrumentation in the cytogenetics laboratory. In: Keagle MB, Gersen SL, eds. The Principles of Clinical Cytogenetics. New York: Humana Press. 2005; 113–130.

Jacky PB. Fragile X and other heritable fragile sites on human chromosomes. In Barch MJ, Knutsen TK, Spurbeck JL editors. The AGT Cytogenetics Laboratory Manual. 3rd ed. New York: Lippincott-Raven Press Ltd. 1997; 527–556.

Jacky PB, Sutherland GR. Thymidylate synthetase inhibitors and fragile site expression in lymphocytes. Am J Hum Genet 1983 Nov;35(6):1276–1283. PMID: 6228136.

Richards RI, Sutherland GR. Fragile X syndrome: The molecular picture comes into focus. Trends Genet 1992 Jan;8(7):249–255.

Soudek D, Partington MW, Lawson JS. The fragile X syndrome I: Familial variation in the proportion of lymphocytes with the fragile site in males. Am J Hum Genet 1984 Jan;17(1):241–252. PMID: 6711598.

Wang Q, Green E, Barnicoat A, Garrett D et al. Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet 1983 Oct;342(8878):1025–1026. PMID: 8105267.

Tarleton JC, Soul RA. Molecular genetic advances in fragile X syndrome. J Pediatr 1993 Feb;122(2):169–185. PMID: 8429429.

Iqbal MA, Sakati N, Nester M, Ozand P. Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia. Ann Saudi Med 2000 May-Jul;20(3-4):214–217. PMID: 17322660.

Hofstee Y, Arinami T, Hamaguchi H. Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individual. Am J Med Genet 1994 Jul;51(4):466–470. PMID: 7943021.

Rousseau F, Heitz D, Tarleton J, MacPherson J et al. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet 1994 Aug;55(2):225–237. PMID: 8037202.

Charles AL. Fragile X allelemorphism among the mentally retarded and in affected families. Sci Res Essays 2009;4(10):1123–1131.

Nasiri F, Mahjoubi F, Manouchehry F Razazian F et al. Cytogenetic findings in mentally retarded iranian patients. Balkan J Med Genet 2012 Dec;15(2):29–34. PMID: 24052729.

Mundhofir FEP, Winarni TI, van Bon BW, Aminah S et al. A cytogenetic study in a large population of intellectually disabled Indonesians. Genet Test Mol Biomarkers 2012 May;16(5):412–417. PMID: 22191675.

Winarni TI, Utari A, Mundhofir FEP, Hagerman RJ et al. Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia. Clin Genet 2013 Dec;84(6):577–580. PMID: 23320543.

Lennox N. Developmental Disability Steering Group. Management guidelines: developmental disability. Melbourne, Australia: Therapeutic Guidelines; Preventive health care and health promotion; 2005: 95–99. Version 2.

Webb T. Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel). J Med Genet 1991: 28 (12): 814–817.




DOI: http://dx.doi.org/10.18035/emj.v3i1.276

Refbacks

  • There are currently no refbacks.




Copyright (c) 2015 Elective Medicine Journal

Copyright 2012-14 © Mednifico Publishers and

INDEXATIONS

DOAJ         Copernicus         Scholar

Ulrichsweb         Journalseek         J-Gate