메뉴 건너뛰기




Volumn 85, Issue 2, 2014, Pages 147-153

Chromosomal microarray impacts clinical management

Author keywords

Array comparative genomic hybridization; Chromosomal microarray analysis; Genetic testing; Patient care management

Indexed keywords

PAFAH1B1 PROTEIN; PROTEIN; RPS6KA3 PROTEIN; UNCLASSIFIED DRUG;

EID: 84892485770     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12107     Document Type: Article
Times cited : (66)

References (38)
  • 1
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010: 12 (11): 742-745.
    • (2010) Genet Med , vol.12 , Issue.11 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 2
    • 84857434829 scopus 로고    scopus 로고
    • Genomics, intellectual disability, and autism
    • Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. N Engl J Med 2012: 366 (8): 733-743.
    • (2012) N Engl J Med , vol.366 , Issue.8 , pp. 733-743
    • Mefford, H.C.1    Batshaw, M.L.2    Hoffman, E.P.3
  • 3
    • 58249088497 scopus 로고    scopus 로고
    • Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
    • Lu XY, Phung MT, Shaw CA et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 2008: 122 (6): 1310-1318.
    • (2008) Pediatrics , vol.122 , Issue.6 , pp. 1310-1318
    • Lu, X.Y.1    Phung, M.T.2    Shaw, C.A.3
  • 4
    • 33745314874 scopus 로고    scopus 로고
    • Clinical genetic evaluation of the child with mental retardation or developmental delays
    • Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006: 117 (6): 2304-2316.
    • (2006) Pediatrics , vol.117 , Issue.6 , pp. 2304-2316
    • Moeschler, J.B.1    Shevell, M.2
  • 5
    • 0037432002 scopus 로고    scopus 로고
    • 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
    • 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 (3): 367-380.
    • (2003) Neurology , vol.60 , Issue.3 , pp. 367-380
    • Shevell, M.1    Ashwal, S.2    Donley, D.3
  • 6
    • 42149168524 scopus 로고    scopus 로고
    • Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
    • Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 2008: 10 (4): 301-305.
    • (2008) Genet Med , vol.10 , Issue.4 , pp. 301-305
    • Schaefer, G.B.1    Mendelsohn, N.J.2
  • 7
    • 36048931014 scopus 로고    scopus 로고
    • Identification and evaluation of children with autism spectrum disorders
    • Johnson CP, Myers SM. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007: 120 (5): 1183-1215.
    • (2007) Pediatrics , vol.120 , Issue.5 , pp. 1183-1215
    • Johnson, C.P.1    Myers, S.M.2
  • 8
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010: 86 (5): 749-764.
    • (2010) Am J Hum Genet , vol.86 , Issue.5 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 9
    • 63449115513 scopus 로고    scopus 로고
    • Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
    • Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JP, Burton H. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13, 926 subjects. Genet Med 2009: 11 (3): 139-146.
    • (2009) Genet Med , vol.11 , Issue.3 , pp. 139-146
    • Sagoo, G.S.1    Butterworth, A.S.2    Sanderson, S.3    Shaw-Smith, C.4    Higgins, J.P.5    Burton, H.6
  • 10
    • 67650659089 scopus 로고    scopus 로고
    • Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
    • Hochstenbach R, van Binsbergen E, Engelen J et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36, 325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet 2009: 52 (4): 161-169.
    • (2009) Eur J Med Genet , vol.52 , Issue.4 , pp. 161-169
    • Hochstenbach, R.1    van Binsbergen, E.2    Engelen, J.3
  • 11
    • 33745226965 scopus 로고    scopus 로고
    • Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
    • Ravnan JB, Tepperberg JH, Papenhausen P et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006: 43 (6): 478-489.
    • (2006) J Med Genet , vol.43 , Issue.6 , pp. 478-489
    • Ravnan, J.B.1    Tepperberg, J.H.2    Papenhausen, P.3
  • 12
    • 34547644495 scopus 로고    scopus 로고
    • The clinical utility of enhanced subtelomeric coverage in array CGH
    • 143A
    • Ballif BC, Sulpizio SG, Lloyd RM et al. The clinical utility of enhanced subtelomeric coverage in array CGH. Am J Med Genet A 2007: 143A (16): 1850-1857.
    • (2007) Am J Med Genet A , Issue.16 , pp. 1850-1857
    • Ballif, B.C.1    Sulpizio, S.G.2    Lloyd, R.M.3
  • 13
    • 77951977961 scopus 로고    scopus 로고
    • Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability
    • Regier DA, Friedman JM, Marra CA. Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am J Hum Genet 2010: 86 (5): 765-772.
    • (2010) Am J Hum Genet , vol.86 , Issue.5 , pp. 765-772
    • Regier, D.A.1    Friedman, J.M.2    Marra, C.A.3
  • 14
    • 82955167982 scopus 로고    scopus 로고
    • So what? Does the test lead to improved health outcomes?
    • Trevathan E. So what? Does the test lead to improved health outcomes? Neurology 2011: 77 (17): 1586-1587.
    • (2011) Neurology , vol.77 , Issue.17 , pp. 1586-1587
    • Trevathan, E.1
  • 15
    • 80052592396 scopus 로고    scopus 로고
    • Chromosomal microarray testing influences medical management
    • Coulter ME, Miller DT, Harris DJ et al. Chromosomal microarray testing influences medical management. Genet Med 2011: 13 (9): 770-776.
    • (2011) Genet Med , vol.13 , Issue.9 , pp. 770-776
    • Coulter, M.E.1    Miller, D.T.2    Harris, D.J.3
  • 16
    • 84856889340 scopus 로고    scopus 로고
    • Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey
    • Mroch AR, Flanagan JD, Stein QP. Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey. Curr Probl Pediatr Adolesc Health Care 2012: 42 (3): 74-78.
    • (2012) Curr Probl Pediatr Adolesc Health Care , vol.42 , Issue.3 , pp. 74-78
    • Mroch, A.R.1    Flanagan, J.D.2    Stein, Q.P.3
  • 17
    • 57249086236 scopus 로고    scopus 로고
    • Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay
    • Adam MP, Justice AN, Schelley S, Kwan A, Hudgins L, Martin CL. Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay. J Pediatr 2009: 154 (1): 143-146.
    • (2009) J Pediatr , vol.154 , Issue.1 , pp. 143-146
    • Adam, M.P.1    Justice, A.N.2    Schelley, S.3    Kwan, A.4    Hudgins, L.5    Martin, C.L.6
  • 18
    • 67249148525 scopus 로고    scopus 로고
    • Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH
    • Adams SA, Coppinger J, Saitta SC et al. Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med 2009: 11 (5): 314-322.
    • (2009) Genet Med , vol.11 , Issue.5 , pp. 314-322
    • Adams, S.A.1    Coppinger, J.2    Saitta, S.C.3
  • 19
    • 84892479709 scopus 로고    scopus 로고
    • Mississippi BCBSo. Chromosomal microarray (CMA) analysis for the Genetic Evaluation of Patients with Developmental Delay/Intellectual Disability or Autism Spectrum Disorder 2012, form Accessed on September 18
    • Mississippi BCBSo. Chromosomal microarray (CMA) analysis for the Genetic Evaluation of Patients with Developmental Delay/Intellectual Disability or Autism Spectrum Disorder 2012, form http://www.bcbsms.com/index.php?q=provider-medical-policy-search.html&action=viewPolicy&path=%2Fpolicy%2Femed%2FChromosomal+Microarray+Analysis.html. Accessed on September 18, 2012.
    • (2012)
  • 20
    • 84892476836 scopus 로고    scopus 로고
    • Wellmark. Chromosomal Microarray (CMA) Analysis for the Genetic Evaluation of Patients with Developmental Delay/Intellectual Disability or Autism Spectrum Disorder 2012, from Accessed on September 18
    • Wellmark. Chromosomal Microarray (CMA) Analysis for the Genetic Evaluation of Patients with Developmental Delay/Intellectual Disability or Autism Spectrum Disorder 2012, from http://www.wellmark.com/Provider/MedPoliciesAndAuthorizations/MedicalPolicies/policies/Comparative_Genomic_Hybridization.aspx. Accessed on September 18, 2012.
    • (2012)
  • 21
    • 48849108010 scopus 로고    scopus 로고
    • Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    • Baldwin EL, Lee JY, Blake DM et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008: 10 (6): 415-429.
    • (2008) Genet Med , vol.10 , Issue.6 , pp. 415-429
    • Baldwin, E.L.1    Lee, J.Y.2    Blake, D.M.3
  • 22
    • 84892476672 scopus 로고    scopus 로고
    • (Updated March 3, 2009). LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). , University of Washington, Seattle. 1997-2012, from Accessed on January 3
    • Dobyns WB, Das S. (Updated March 3, 2009). LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). , University of Washington, Seattle. 1997-2012, from http://www.genetests.org. Accessed on January 3, 2013.
    • (2013)
    • Dobyns, W.B.1    Das, S.2
  • 23
    • 84892477931 scopus 로고    scopus 로고
    • (Updated February 9, 2010). Li-Fraumeni Syndrome. 1993. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). , University of Washington, Seattle. 1997-2012, from Accessed on January 3
    • Schneider K, Garber J. (Updated February 9, 2010). Li-Fraumeni Syndrome. 1993. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). , University of Washington, Seattle. 1997-2012, from http://www.genetests.org. Accessed on January 3, 2013.
    • (2013)
    • Schneider, K.1    Garber, J.2
  • 24
    • 84892485670 scopus 로고    scopus 로고
    • Network NCC. Genetic/Familial High Risk Assessment: Breast and Ovarian 2012, from Accessed on September 18
    • Network NCC. Genetic/Familial High Risk Assessment: Breast and Ovarian 2012, from http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed on September 18, 2012.
    • (2012)
  • 25
    • 84892480391 scopus 로고
    • (Updated January 15, 2009). Coffin-Lowry Syndrome. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). , University of Washington, Seattle. 1997-2012, from Accessed on January 3, 2013.
    • Hunter AGW, Abidi FE. (Updated January 15, 2009). Coffin-Lowry Syndrome. 1993. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). , University of Washington, Seattle. 1997-2012, from http://www.genetests.org. Accessed on January 3, 2013.
    • (1993)
    • Hunter, A.G.W.1    Abidi, F.E.2
  • 27
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals
    • Frank TS, Deffenbaugh AM, Reid JE et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10, 000 individuals. J Clin Oncol 2002: 20 (6): 1480-1490.
    • (2002) J Clin Oncol , vol.20 , Issue.6 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 28
    • 0033837083 scopus 로고    scopus 로고
    • Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society
    • Filipek PA, Accardo PJ, Ashwal S et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 2000: 55 (4): 468-479.
    • (2000) Neurology , vol.55 , Issue.4 , pp. 468-479
    • Filipek, P.A.1    Accardo, P.J.2    Ashwal, S.3
  • 29
    • 77950564908 scopus 로고    scopus 로고
    • Clinical genetic testing for patients with autism spectrum disorders
    • Shen Y, Dies KA, Holm IA et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010: 125 (4): e727-e735.
    • (2010) Pediatrics , vol.125 , Issue.4
    • Shen, Y.1    Dies, K.A.2    Holm, I.A.3
  • 30
    • 80052535784 scopus 로고    scopus 로고
    • Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center
    • Roesser J. Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center. Clin Pediatr 2011: 50 (9): 834-843.
    • (2011) Clin Pediatr , vol.50 , Issue.9 , pp. 834-843
    • Roesser, J.1
  • 31
    • 33749465589 scopus 로고    scopus 로고
    • Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    • Rauch A, Hoyer J, Guth S et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006: 140 (19): 2063-2074.
    • (2006) Am J Med Genet A , vol.140 , Issue.19 , pp. 2063-2074
    • Rauch, A.1    Hoyer, J.2    Guth, S.3
  • 32
    • 0032919662 scopus 로고    scopus 로고
    • Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry
    • Battaglia A, Bianchini E, Carey JC. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. Am J Med Genet 1999: 82 (1): 60-66.
    • (1999) Am J Med Genet , vol.82 , Issue.1 , pp. 60-66
    • Battaglia, A.1    Bianchini, E.2    Carey, J.C.3
  • 33
    • 0028362238 scopus 로고
    • Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing
    • Hagerman RJ, Wilson P, Staley LW et al. Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing. Am J Med Genet 1994: 51 (4): 474-481.
    • (1994) Am J Med Genet , vol.51 , Issue.4 , pp. 474-481
    • Hagerman, R.J.1    Wilson, P.2    Staley, L.W.3
  • 34
    • 16944362509 scopus 로고    scopus 로고
    • Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group
    • de Vries BB, van den Ouweland AM, Mohkamsing S et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet 1997: 61 (3): 660-667.
    • (1997) Am J Hum Genet , vol.61 , Issue.3 , pp. 660-667
    • de Vries, B.B.1    van den Ouweland, A.M.2    Mohkamsing, S.3
  • 35
    • 82955235679 scopus 로고    scopus 로고
    • Evidence report: genetic and metabolic testing on children 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
    • Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: genetic and metabolic testing on children 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 2011: 77 (17): 1629-1635.
    • (2011) Neurology , vol.77 , Issue.17 , pp. 1629-1635
    • Michelson, D.J.1    Shevell, M.I.2    Sherr, E.H.3    Moeschler, J.B.4    Gropman, A.L.5    Ashwal, S.6
  • 36
    • 70349478693 scopus 로고    scopus 로고
    • Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome
    • 149A
    • Graham JM Jr, Kramer N, Bejjani BA et al. Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome. Am J Med Genet A 2009: 149A (10): 2122-2128.
    • (2009) Am J Med Genet A , Issue.10 , pp. 2122-2128
    • Graham Jr., J.M.1    Kramer, N.2    Bejjani, B.A.3
  • 37
    • 78249281977 scopus 로고    scopus 로고
    • Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
    • Moreno-De-Luca D, Mulle JG, Kaminsky EB et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010: 87 (5): 618-630.
    • (2010) Am J Hum Genet , vol.87 , Issue.5 , pp. 618-630
    • Moreno-De-Luca, D.1    Mulle, J.G.2    Kaminsky, E.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.