The frequency of chromosomal abnormalities in patients referred for fragile X analysis

Annals of Clinical and Laboratory Science

Volumn 26, Issue 4, 1996, Pages 323-328

  Mark, Hon Fong Louie ^a,c   Bier, Jo Ann Blaymore ^b   Scola, Patricia ^b  

^a Laboratory of Cytogenetics FISH and Genotoxicology   (United States)

^b BROWN UNIVERSITY   (United States)

^c RHODE ISLAND HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CYTOGENETICS; FRAGILE X SYNDROME; HUMAN; HUMAN CELL; KARYOTYPING; PRIORITY JOURNAL; X CHROMOSOME;

CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CYTOGENETICS; DNA; FEMALE; FRAGILE X SYNDROME; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; SEX CHROMOSOMES;

EID: 0029999485     PISSN: 00917370     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Thompson MW, McInnes RR, Willard HF. Thompson & Thompson: Genetics in Medicine. 5th ed. Philadelphia: W.B. Saunders Company, 1991.
2. Warren ST, Nelson DL. Advances in molecular analysis of fragile X syndrome. JAMA 1994;271: 536-42.
3. Verkerk AJMH et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-14.
4. Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991;252:1179-81.
5. Oberle I, Rousseau R, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-1102.
6. Opitz JM, Sutherland GR. Conference report: International workshop on the fragile X and X-Iinked mental retardation. Am J Med Genet 1984;17:5-94.
7. deGrouchy J, Turleau C. Clinical Atlas of Human Chromosomes. New York: John Wiley and Sons, 1984:126-33.
8. Hagerman R, Amiri J, Cronister A. Fragile X checklist. Am J Med Genet 1991;38:283-7.
9. Moorhead PS, Nowell PC, Mellman WJ, et al. Chromosome preparations of leukocytes cultures from human peripheral blood. Exp Cell Res 1960;20:613-6.
10. Yunis JJ. High resolution of human chromosomes. Science 1976;191:1268-70.
11. Yunis JJ, Soveng AL, Bowe AE. Fragile sites are targets of diverse mutagens and carcinogens. Oncogene 1987;1:59-60.
12. Sumner AT, Evans HJ, Buckland RA. New technique for distinguishing between human chromosomes. Nature New Biol 1971;232:31-2.
13. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;2:971-2.
14. Harnden D, Klinger HP. An International System for Human Cytogenetic Nomenclature. Basil, Switzerland: Karger, 1985.
15. Jacky PB et al. Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. Am J Med Genet 1991;38:400-3.
16. Blomquist HK, Gustavson K-H, Holmgren G, Nordenson I, Sweins A. Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish country. A prevalence study. Clin Genet 1982; 21:209-14.
17. Schreppers-Tijdink GA, Curgs LM, Wiegers A, Kleczkowska A, Fryns JP. A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviorly disturbed patients including fragile X screening. The Hondsberg experience. J de Genet Humaine 1988;36:42546.
18. Marini T, Pflueger S, Naber S, et al. A five year experience with fragile X testing. Am J Hum Gen 1995;57(No. 4), Suppl.:A120.
19. Mark HFL, Watson M. Evolving standards of practice for clinical cytogenetics. RI Medicine 1994;77:373-1.
20. Mark HFL et al. Laboratory Practices: Impact of regulations on genetic testing. J. Medical Genetics 1995;32:780-6.
21. American College of Medical Genetics (Park V et al.). Fragile X Syndrome: Diagnostic and Carrier Testing. Policy Statement. July 22, 1994. (Amer. J. Med. Genetics. In press)
22. Morton JE, Rindl PM, Bullock S, Bundey S, Webb T. Fragile X syndrome is less common than previously estimated. J Med Genet 1995; 32:144-5.
23. Jacobs PA. The fragile X syndrome. J Med Genet 1991;28:809-10.
24. 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;28:814-7.
25. Willemsen R, Bakker C, Mandel J-L et al. Rapid screening test for fragile X syndrome. Am J Hum Gen 1995;57(No. 4), Suppl.:A232.