Seminars in Pediatric Neurology
Volume 14, Issue 1 , Pages 2-6 , March 2007

Role of Cytogenetics and Molecular Cytogenetics in the Diagnosis of Genetic Imbalances

  • Bhavana J. Dave, PhD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Bhavana J. Dave, PhD, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, 985440 Nebraska Medical Center, Omaha, NE 68198-5440.
    • ,
  • Warren G. Sanger, PhD

References 

  1. Kuwano A, Ledbetter SA, Dobyns WB, et al. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet. 1991;49:707–714
  2. Nickerson E, McCaskill C, Greenberg F, et al. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet. 1995;56:1156–1161
  3. Ligon AH, Beaudet AL, Shaffer LG. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. Am J Hum Genet. 1997;61:51–59
  4. Knight SJ, Horsley SW, Regan R, et al. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet. 1997;5:1–8
  5. Knight SJ, Flint J. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis. J Med Genet. 2000;37:401–409
  6. National Institutes of Health and Institute of Molecular Medicine Collaboration. A complete set of human telomeric probes and their clinical application. Nat Genet. 1996;14:86–89
  7. Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;258:818–821
  8. Solinas-Toldo S, Lampel S, Stilgenbauer S, et al. Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances. Genes Chromosomes Cancer. 1997;20:399–407
  9. Pinkel D, Segraves R, Sudar D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet. 1998;20:207–211
  10. Buckley PG, Mantripragada KK, Benetkiewicz M, et al. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet. 2002;11:3221–3229
  11. Snijders AM, Nowak N, Segraves R, et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet. 2001;29:263–264
  12. Vermeesch JR, Melotte C, Froyen G, et al. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem. 2005;53:413–422
  13. King W, Proffitt J, Morrison L, et al. The role of fluorescence in situ hybridization technologies in molecular diagnostics and disease management. Mol Diagn. 2000;5:309–319
  14. Veltman JA, Schoenmakers EF, Eussen BH, et al. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet. 2002;70:1269–1276
  15. Vissers LE, de Vries BB, Osoegawa K, et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet. 2003;73:1261–1270
  16. Shaw-Smith C, Redon R, Rickman L, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004;41:241–248
  17. Menten B, Maas N, Thienpont B, et al. Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of the literature. J Med Genet. 2006;43:625–633
  18. Schoumans J, Anderlid BM, Blennow E, et al. The performance of CGH array for the detection of cryptic constitutional chromosome imbalances. J Med Genet. 2004;41:198–202
  19. Albertson DG, Pinkel D. Genomic microarrays in human genetic disease and cancer. Hum Mol Genet. 2003;12:R145–R152
  20. Vissers LE, Veltman JA, van Kessel AG, et al. Identification of disease genes by whole genome CGH arrays. Hum Mol Genet. 2005;14:R215–R223
  21. Lockwood WW, Chari R, Chi B, et al. Recent advances in array comparative genomic hybridization technologies and their applications in human genetics. Eur J Hum Genet. 2006;14:139–148
  22. Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004;36:949–951
  23. Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science. 2004;305:525–528
  24. Barber JC. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet. 2005;42:609–629
  25. Conrad DF, Andrews TD, Carter NP, et al. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet. 2006;38:75–81
  26. Shaffer LG, Kashork CD, Selaki R, et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr. 2006;149:98–102
  27. Rauen KA, Albertson DG, Pinkel D, et al. Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome?. Am J Med Genet. 2002;110:51–56
  28. Veltman JA, Jonkers Y, Nuijten I, et al. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet. 2003;72:1578–1584
  29. Gunn SR, Mohammed M, Reveles XT, et al. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet A. 2003;120:127–135

PII: S1071-9091(06)00160-4

doi: 10.1016/j.spen.2006.11.003

Seminars in Pediatric Neurology
Volume 14, Issue 1 , Pages 2-6 , March 2007

Article Tools