Pediatric Neurology
Volume 41, Issue 6 , Pages 391-398 , December 2009

Chromosomal Microarray Interpretation: What Is a Child Neurologist to Do?

  • Alex R. Paciorkowski, MD

      Affiliations

    • Division of Pediatric and Developmental Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri
    • Corresponding Author InformationCommunications should be addressed to: Dr. Paciorkowski; Division of Pediatric and Developmental Neurology; Department of Neurology; Washington University School of Medicine; Campus Box 8111; 660 South Euclid Avenue; St. Louis, MO 63110-1093.
    • ,
  • Min Fang, MD, PhD

      Affiliations

    • Clinical Research Division, Department of Pathology, Fred Hutchinson Cancer Research Center, University of Washington, Seattle, Washington

Received 25 February 2009 ,Accepted 4 May 2009.

References 

  1. Ledbetter DH. Cytogenetic technology: genotype and phenotype. N Engl J Med. 2008;359:1728–1730
  2. Carey JC, Viskochil DH. Status of the human malformation map: 2007. Am J Med Genet A. 2007;143A:2868–2885
  3. Mefford H, Sharp A, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008;359:1685–1699
  4. Sharp AJ, Mefford HC, Li K, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet. 2008;40:322–328
  5. Sharp AJ, Selzer RR, Veltman JA, et al. Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet. 2007;16:567–572
  6. Kumar RA, KaraMohamed S, Sudi J, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008;17:628–638
  7. Weiss LA, Shen Y, Korn JM, et al. Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358:667–675
  8. Koolen DA, Sharp AJ, Hurst JA, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008;45:710–720
  9. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444:444–454
  10. Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet. 2002;3:199–242
  11. Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003;60:367–380
  12. Van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet. 2005;13:6–25
  13. Shaffer LG, Kashork CD, Saleki R, et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. [Erratum in: J Pediatr 2006;149:585] J Pediatr. 2006;149:98–102
  14. Shaffer LG. American College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med. 2005;7:650–654
  15. Moeschler JB, Shevell M. American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117:2304–2316
  16. Moeschler JB. Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol. 2008;15:2–9
  17. Jacquemont ML, Sanlaville D, Redon R, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autistic spectrum disorders. J Med Genet. 2006;43:843–849
  18. Moeschler JB. Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability. Curr Opin Neurol. 2008;21:117–122
  19. Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;258:818–821
  20. Shaikh TH. Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genet Med. 2007;9:617–625
  21. Bejjani BA, Saleki R, Ballif BC, et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?. Am J Med Genet A. 2005;134:259–267
  22. Veltman JA, de Vries BB. Diagnostic genome profiling: unbiased whole genome or targeted analysis?. J Mol Diagn. 2006;8:534–537
  23. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science. 2007;316:445–449
  24. Friedman JM, Baross A, Delaney AD, et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet. 2006;79:500–513
  25. Shen J, Eyaid W, Mochida GH, et al. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005;42:725–729
  26. Altug-Teber O, Dufke A, Poths S, et al. A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat. 2005;26:153–159
  27. Papenhausen PR, Gadi I, Risheg H, Bailey-Pridham C, Tepperberg J. SNP based copy number microarrays provide cues to UPD, and recessive allele risk due to inbreeding [Abstract]. Presented at the 2008 Meeting of the American Society of Human Genetics [Available at http://www.ashg.org].
  28. McCarroll SA, Hadnott TN, Perry GH, et al. International HapMap Consortium. Common deletion polymorphisms in the human genome. Nat Genet. 2006;38:86–92
  29. Lupski JR. Genome structural variation and sporadic disease traits. Nat Genet. 2006;38:974–976
  30. Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007;131:1235–1247
  31. Eichler EE, Zimmerman AW. A hot spot of genetic instability in autism. N Engl J Med. 2008;358:737–739
  32. Perry GH, Tchinda J, McGrath SD, et al. Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A. 2006;103:8006–8011
  33. Wong KK, deLeeuw RJ, Dosanjh NS, et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet. 2007;80:91–104
  34. Kidd JM, Cooper GM, Donahue WF, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 2008;453:56–64
  35. Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007;39(7 Suppl):S48–S54
  36. Scherer SW, Lee C, Birney E, et al. Challenges and standards in integrating surveys of structural variation. Nat Genet. 2007;39(7 Suppl):S7–15
  37. Koolen DA, Pfundt R, de Leeuw N, et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat. 2009;30:283–292
  38. Shapira SK, McCaskill C, Northrup H, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997;61:642–650
  39. Gajecka M, Mackay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet. 2007;145C:346–356
  40. Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008;51:501–510
  41. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007;17:182–192
  42. Greisman HA, Yi HS, Hoffman NG. transCGH: Rapid identification and high-resolution mapping of balanced IgH translocations in archival DNA using custom oligonucleotide arrays. [Abstract] Blood. 2007;110:459
  43. In:  Shaffer LG,  Tommerup N editor. ISCN 2005: an international system for human cytogenetic nomenclature (2005). Basel: S. Karger; 2005;

PII: S0887-8994(09)00268-9

doi: 10.1016/j.pediatrneurol.2009.05.003

Pediatric Neurology
Volume 41, Issue 6 , Pages 391-398 , December 2009

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