Laboratory Issues

Two commercial sources for FISH probes are currently available (suppliers are Vysis, Inc, and Cytocell, Inc). A CGH-based microarray test system also is commercially available (Vysis, Inc). The FISH probe sets are classified by the FDA as analyte-specific reagents. Recommendations for FISH test validation methods have been established by the ACMG ( Proficiency testing is not available for subtelomeric FISH testing; however, the CAP does provide proficiency testing for other types of FISH assays.


1. Pieretti M, Zhang FP, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66:817-822.

2. Saul RA, Tarleton J, Fragile X syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 1997-2003.

3. Eichler EE, Richards S, Gibbs RA, et al. Fine structure of the human FMR1 gene. Hum Mol Genet. 1993;2:1147-1153.

4. Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991;325:1673-1681.

5. Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991;67:1047-1058.

6. Tassone F, Hagerman RJ, Ikle DN, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet. 1999;84:250-261.

7. Engel E. A new genetic concept: uniparental disomy and its potential effect. Am J Med Genet. 1980;6:137-143.

8. Engel E, Antonarakis SE. Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects. New York: Wiley-Liss; 2002.

9. Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988;42: 217-226.

10. Sapienza C, Hall JG, Scriver CR, Beaudet AR, Sly WS, et al. Genome imprinting in human disease. In: Scriver CR, et al., eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001.

11. Gallagher RC, Pils, B, Albalwi M, et al. Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am J Hum Genet. 2002;71:669-678.

12. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet. 1997;15:70-73.

13. Cassidy SB, Schwartz S. Prader-Willi syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 1997-2003.

14. Williams CA, Lossie AC, Driscoll DJ. Angelman syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington; 1997-2003.

15. Malzac P, Webber H, Moncla A, et al. Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet. 1998;62:1353-1360.

16. Beuten J, Sutcliff JS, Casey BM, et al. Detection of imprinting mutations in Angelman syndrome using a probe for exon a of SNRPN [letter]. Am J Med Genet. 1996;63:414-415.

17. Kubota T, Das S, Christian SL, et al. Methylation-specific PCR simplifies imprinting analysis [letter]. Nat Genet 1997;16:16-17.

18. American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee. Diagnostic testing for Prader-Willi and Angelman syndromes: report of the ASHG/ACMG Test and Technology Transfer Committee. Am J Hum Genet. 1996;58:1085-1088.

19. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol. 1983;14:471-479.

20. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23: 185-188.

21. Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epi-genetics and neuronal function. Am J Hum Genet. 2002;71:1259-1272.

22. Fang P, Jin W, Glaze DG, Percy A, Zoghbi HY, Roa BB. MECP2 gene deletions account for ~10% of Rett syndrome cases. The American Society of Human Genetics. 2004;476:2652.

23. Mnatzakanian GN, Lohi H, Munteanu I, et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet. 2004;36:339-341.

24. Buyse IM, Roa BB. Denaturing high-performance liquid chromatography and sequence analysis for MECP2 mutations in Rett syndrome. In: Potter NT, ed. Methods in Molecular Biology: Neurogenetics Methods and Protocols. Vol. 217. Totowa, NJ: Humana Press; 2002:119-130.

25. ACMG Laboratory Practice Committee Working Group. ACMG recommendations for standards for interpretation of sequence variations. Genet Med. 2000;2:302-330.

26. Morris CA. Williams Syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes, 2nd ed. New York: Wiley-Liss; 2005:655-665.

27. Osborne LR, Li M, Pober B, et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet. 2001;29:321-325.

28. Li DY, Faury G, Taylor DG, et al. Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest. 1998;102:1783-1787.

29. Tassabehji M, Metcalfe K, Karmiloff-Smith A, et al. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet. 1999;64: 118-125.

30. Knight SJL, Flint J. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet. 2000;37:401-409.

31. Mefford HC, Trask BJ. The complex structure and dynamic evolution of human subtelomeres. Nat Rev Genet. 2002;3:91-102.

32. Biesecker LG. The end of the beginning of chromosome ends. Am J Med Genet. 2002;107:263-266.

33. Knight SJL, Lese CM, Precht KS, et al. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet. 2000;67:320-332.

0 0

Post a comment