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Volumn 36, Issue 17, 2010, Pages

"Idiopathic" mental retardation and new chromosomal abnormalities

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME ABERRATION; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; EPIGENETICS; GENE DELETION; GENE DUPLICATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MENTAL DEFICIENCY; REVIEW; CHILD; DIFFERENTIAL DIAGNOSIS; GENETIC PROCEDURES; GENETICS; GENOTYPE; INCIDENCE; ITALY; X LINKED MENTAL RETARDATION;

EID: 77950149292     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/1824-7288-36-17     Document Type: Review
Times cited : (7)

References (44)
  • 1
    • 77950183651 scopus 로고    scopus 로고
    • Genomic microarrays in mental retardation: From CNV to gene, from research to diagnosis
    • Vissers LE, de Vries BB, Veltman JA: Genomic microarrays in mental retardation: from CNV to gene, from research to diagnosis. J Med Genet 2009.
    • (2009) J Med Genet
    • Vissers, L.E.1    de Vries, B.B.2    Veltman, J.A.3
  • 4
    • 36348975713 scopus 로고    scopus 로고
    • The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future
    • Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC: The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet 2007, 145C:335-345.
    • (2007) Am J Med Genet , vol.145 C , pp. 335-345
    • Shaffer, L.G.1    Bejjani, B.A.2    Torchia, B.3    Kirkpatrick, S.4    Coppinger, J.5    Ballif, B.C.6
  • 5
    • 69249234781 scopus 로고    scopus 로고
    • Clinical Application of Microarray-Based Molecular Cytogenetics: An Emerging New Era of Genomic Medicine
    • . Li MM, Andersson HC: Clinical Application of Microarray-Based Molecular Cytogenetics: An Emerging New Era of Genomic Medicine. J Pediatr 2009, 155:311-317.
    • (2009) J Pediatr , vol.155 , pp. 311-317
    • Li, M.M.1    Andersson, H.C.2
  • 6
    • 60449089258 scopus 로고    scopus 로고
    • Application of Array-based Comparative Genome Hybridization in Children with Developmental Delay or Mental Retardation
    • Liang JS, Shimojima K, Yamamoto T: Application of Array-based Comparative Genome Hybridization in Children with Developmental Delay or Mental Retardation. Pediatr Neonatol 2008, 49:213-217.
    • (2008) Pediatr Neonatol , vol.49 , pp. 213-217
    • Liang, J.S.1    Shimojima, K.2    Yamamoto, T.3
  • 7
    • 0024980658 scopus 로고
    • Birth asphyxia and cerebral palsy
    • Hall DMB: Birth asphyxia and cerebral palsy. BMJ 1989, 299:279-282.
    • (1989) BMJ , vol.299 , pp. 279-282
    • Hall, D.M.B.1
  • 8
    • 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, 82:60-66.
    • (1999) Am J Med Genet , vol.82 , pp. 60-66
    • Battaglia, A.1    Bianchini, E.2    Carey, J.C.3
  • 9
    • 0042306314 scopus 로고    scopus 로고
    • Diagnostic evaluation of developmental delay/ mental retardation: An overview
    • Battaglia A, Carey JC: Diagnostic evaluation of developmental delay/ mental retardation: An overview. Am J Med Genet 2003, 117C:3-14.
    • (2003) Am J Med Genet , vol.117 C , pp. 3-14
    • Battaglia, A.1    Carey, J.C.2
  • 10
    • 0036357205 scopus 로고    scopus 로고
    • Behavioral phenotypes in genetic syndromes: Genetic clues to human behavior
    • Cassidy SB, Morris CA: Behavioral phenotypes in genetic syndromes: genetic clues to human behavior. Adv Pediatr 2002, 49:59-86.
    • (2002) Adv Pediatr , vol.49 , pp. 59-86
    • Cassidy, S.B.1    Morris, C.A.2
  • 11
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • 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.
    • (2007) Curr Opin Genet Dev , vol.17 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2
  • 13
    • 70449482727 scopus 로고    scopus 로고
    • Chromosomal microarray interpretation: What a child neurologist to do?
    • Paciorkowski AR, Fang M: Chromosomal microarray interpretation: what a child neurologist to do?. Pediatr Neurol 2009, 41:391-398.
    • (2009) Pediatr Neurol , vol.41 , pp. 391-398
    • Paciorkowski, A.R.1    Fang, M.2
  • 15
    • 67651229479 scopus 로고    scopus 로고
    • Webber C, Hehir-Kwa JY, DC Nguyen, de Vries BBA, Veltman JA, Ponting CP: Forging Links between Human Mental Retardation-Associated CNVs and Mouse Gene Knockout Models. PLoS Genet 2009, 5:e1000531.
    • Webber C, Hehir-Kwa JY, DC Nguyen, de Vries BBA, Veltman JA, Ponting CP: Forging Links between Human Mental Retardation-Associated CNVs and Mouse Gene Knockout Models. PLoS Genet 2009, 5:e1000531.
  • 16
    • 77950134876 scopus 로고    scopus 로고
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, The Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME: Origins and functional impact of copy number variation in the human genome. Nature 2009.
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, The Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME: Origins and functional impact of copy number variation in the human genome. Nature 2009.
  • 18
    • 62149085882 scopus 로고    scopus 로고
    • Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJM, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR: Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 2009, 46:123-131.
    • Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJM, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR: Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 2009, 46:123-131.
  • 20
    • 22244471387 scopus 로고    scopus 로고
    • Del 1p36 syndrome: A newly emerging clinical entity
    • Battaglia A: Del 1p36 syndrome: a newly emerging clinical entity. Brain Dev 2005, 27:358-361.
    • (2005) Brain Dev , vol.27 , pp. 358-361
    • Battaglia, A.1
  • 24
    • 36348989543 scopus 로고    scopus 로고
    • Chromosome 2q37 deletion: Clinical and molecular aspects
    • Falk RE, Casas KA: Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet 2009, 145C:357-371.
    • (2009) Am J Med Genet , vol.145 C , pp. 357-371
    • Falk, R.E.1    Casas, K.A.2
  • 27
    • 62549160934 scopus 로고    scopus 로고
    • CNV and nervous system diseases-what's new?
    • Gu W, Lupski JR: CNV and nervous system diseases-what's new?. Cytogenet Genome Res 2008, 123:54-64.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 54-64
    • Gu, W.1    Lupski, J.R.2
  • 28
    • 67349101629 scopus 로고    scopus 로고
    • Van der Aa N, Rooms L, Vandeweyer G, Van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF: Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009, 52:94-100.
    • Van der Aa N, Rooms L, Vandeweyer G, Van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF: Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009, 52:94-100.
  • 29
    • 44249121777 scopus 로고    scopus 로고
    • Novel microdeletion syndromes detected by chromosome microarrays
    • Slavotinek AM: Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 2008, 124:1-17.
    • (2008) Hum Genet , vol.124 , pp. 1-17
    • Slavotinek, A.M.1
  • 30
    • 70350774172 scopus 로고    scopus 로고
    • Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF: Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009, 18:3626-3631.
    • Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF: Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009, 18:3626-3631.
  • 31
    • 68049129849 scopus 로고    scopus 로고
    • van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. J Med Genet 2009, 46:511-523.
    • van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. J Med Genet 2009, 46:511-523.
  • 34
    • 66349100470 scopus 로고    scopus 로고
    • Further characterization of the new microdeletion syndrome of 16p11.2-p12.2
    • Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B: Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. Am J Med Genet 2009, 149A:1200-1204.
    • (2009) Am J Med Genet , vol.149 A , pp. 1200-1204
    • Battaglia, A.1    Novelli, A.2    Bernardini, L.3    Igliozzi, R.4    Parrini, B.5
  • 36
    • 67349083547 scopus 로고    scopus 로고
    • Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA: Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009, 52:77-87.
    • Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA: Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009, 52:77-87.
  • 37
    • 56049085381 scopus 로고    scopus 로고
    • Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Vand der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB: Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008, 45:710-720.
    • Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Vand der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB: Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008, 45:710-720.
  • 39
    • 67349189512 scopus 로고    scopus 로고
    • Microduplication 22q11.2: A new chromosomal syndrome
    • Portnoï MF: Microduplication 22q11.2: A new chromosomal syndrome. Eur J Med Gen 2009, 52:88-93.
    • (2009) Eur J Med Gen , vol.52 , pp. 88-93
    • Portnoï, M.F.1
  • 41
    • 52949098733 scopus 로고    scopus 로고
    • Genetics of intellectual disability
    • Ropers HH: Genetics of intellectual disability. Curr Opin Genet Dev 2008, 18:241-250.
    • (2008) Curr Opin Genet Dev , vol.18 , pp. 241-250
    • Ropers, H.H.1
  • 42
    • 51649099748 scopus 로고    scopus 로고
    • Brain development: Anatomy, connectivity, adaptive plasticity, and toxicity
    • Kalia M: Brain development: anatomy, connectivity, adaptive plasticity, and toxicity. Metabolism 2008, 57(Suppl 2):S2-5.
    • (2008) Metabolism , vol.57 , Issue.SUPPL. 2
    • Kalia, M.1
  • 43
    • 70449725209 scopus 로고    scopus 로고
    • Epigenetic mechanisms in neurological diseases: Genes, syndromes, and therapies
    • Urdinguio RG, Sanchez-Mut JV, Esteller M: Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. Lancet Neurol 2009, 8:1056-1072.
    • (2009) Lancet Neurol , vol.8 , pp. 1056-1072
    • Urdinguio, R.G.1    Sanchez-Mut, J.V.2    Esteller, M.3
  • 44
    • 67649867069 scopus 로고    scopus 로고
    • Epigenetic dysregulation in cognitive disorders
    • Gräff J, Mansuy IM: Epigenetic dysregulation in cognitive disorders. Eur J Neurosci 2009, 30:1-8.
    • (2009) Eur J Neurosci , vol.30 , pp. 1-8
    • Gräff, J.1    Mansuy, I.M.2


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