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Volumn 152, Issue 5, 2010, Pages 1066-1078

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

Author keywords

Clinical management in duplication syndromes; Copy number variants; Genomic disorders; Microduplication

Indexed keywords

AUTISM; CARDIOVASCULAR MALFORMATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MUTATION; CLINICAL ASSESSMENT; CLINICAL FEATURE; COGNITION; DISEASE ASSOCIATION; GENE DUPLICATION; GENE NUMBER; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC RISK; GENETIC VARIABILITY; GROWTH DISORDER; HUMAN; KIDNEY MALFORMATION; MICRODUPLICATION SYNDROME; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SKELETON MALFORMATION; SUPPORT GROUP; UROGENITAL TRACT MALFORMATION;

EID: 77951760180     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33185     Document Type: Review
Times cited : (27)

References (99)
  • 1
  • 2
    • 0027934165 scopus 로고
    • Brief report: Duplication of chromosome 15q11-13 in two individuals with autistic disorder
    • DOI 10.1007/BF02172133
    • Baker P, Piven J, Schwartz S, Patil S. 1994. Duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord 24:529-535. (Pubitemid 24235670)
    • (1994) Journal of Autism and Developmental Disorders , vol.24 , Issue.4 , pp. 529-535
    • Baker, P.1    Piven, J.2    Schwartz, S.3    Patil, S.4
  • 4
    • 58149237890 scopus 로고    scopus 로고
    • The inv dup (15) or idic (15) syndrome (tetrasomy 15q)
    • Battaglia A. 2008. The inv dup (15) or idic (15) syndrome (tetrasomy 15q). Orphanet J Rare Dis 3:30.
    • (2008) Orphanet J Rare Dis , vol.3 , pp. 30
    • Battaglia, A.1
  • 5
    • 34447569298 scopus 로고    scopus 로고
    • Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
    • DOI 10.1038/nrg2149, PII NRG2149
    • Beckmann JS, Estivill X, Antonarakis S. 2007. Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 8:639-646. (Pubitemid 47077281)
    • (2007) Nature Reviews Genetics , vol.8 , Issue.8 , pp. 639-646
    • Beckmann, J.S.1    Estivill, X.2    Antonarakis, S.E.3
  • 11
    • 33750586880 scopus 로고    scopus 로고
    • Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/velocardiofacial syndrome
    • DOI 10.1002/ajmg.a.31499
    • Brunet A, Gabau E, Perich R, Valdesoiro L, Brun C, Caballín M, Guitart M. 2006. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Am J Med Genet Part A 140A:2426-2432. (Pubitemid 44684937)
    • (2006) American Journal of Medical Genetics, Part a , vol.140 , Issue.22 , pp. 2426-2432
    • Brunet, A.1    Gabau, E.2    Perich, R.M.3    Valdesoiro, L.4    Brun, C.5    Caballin, M.R.6    Guitart, M.7
  • 14
    • 0033651946 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes: Sister imprinted disorders
    • Cassidy S, Dykens E, Williams C. 2000. Prader-Willi and Angelman syndromes: Sister imprinted disorders. Am J Med Genet 97:136-146.
    • (2000) Am J Med Genet , vol.97 , pp. 136-146
    • Cassidy, S.1    Dykens, E.2    Williams, C.3
  • 15
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • DOI 10.1038/ng1097-154
    • Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163. (Pubitemid 27425947)
    • (1997) Nature Genetics , vol.17 , Issue.2 , pp. 154-163
    • Chen, K.-S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7    Lupski, J.R.8
  • 17
    • 0027231008 scopus 로고
    • Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman
    • Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. 1993. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet 30:529-531. (Pubitemid 23197282)
    • (1993) Journal of Medical Genetics , vol.30 , Issue.6 , pp. 529-531
    • Clayton-Smith, J.1    Webb, T.2    Cheng, X.J.3    Pembrey, M.E.4    Malcolm, S.5
  • 20
    • 40449090405 scopus 로고    scopus 로고
    • Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? - Report of two families
    • DOI 10.1002/ajmg.a.31910
    • Courtens W, Schramme I, Laridon A. 2008. Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? - Report of two families. Am J Med Genet Part A 146A:758-763. (Pubitemid 351354151)
    • (2008) American Journal of Medical Genetics, Part a , vol.146 , Issue.6 , pp. 758-763
    • Courtens, W.1    Schramme, I.2    Laridon, A.3
  • 27
    • 58149153113 scopus 로고    scopus 로고
    • Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies
    • Edelmann L, Hirschhorn K. 2009. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann NY Acad Sci 1151:157-166.
    • (2009) Ann NY Acad Sci , vol.1151 , pp. 157-166
    • Edelmann, L.1    Hirschhorn, K.2
  • 35
    • 2442715047 scopus 로고    scopus 로고
    • A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
    • DOI 10.1111/j.0009-9163.2004.0212.x
    • Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ. 2004. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 65:400-404. (Pubitemid 38659710)
    • (2004) Clinical Genetics , vol.65 , Issue.5 , pp. 400-404
    • Hassed, S.J.1    Hopcus-Niccum, D.2    Zhang, L.3    Li, S.4    Mulvihill, J.J.5
  • 36
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium.
    • International Schizophrenia Consortium. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455:237-241.
    • (2008) Nature , vol.455 , pp. 237-241
  • 37
    • 56949105938 scopus 로고    scopus 로고
    • A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients
    • Kiholm Lund AB, Hove HD, Kirchhoff M. 2008. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. Eur J Med Genet 51:520-526.
    • (2008) Eur J Med Genet , vol.51 , pp. 520-526
    • Kiholm Lund, A.B.1    Hove, H.D.2    Kirchhoff, M.3
  • 38
    • 33846329439 scopus 로고    scopus 로고
    • MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
    • DOI 10.1016/j.ejmg.2006.10.002, PII S1769721206001029
    • Kirchhoff M,Bisgaard AM,Bryndorf T, Gerdes T. 2007a. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet 50:33-42. (Pubitemid 46110981)
    • (2007) European Journal of Medical Genetics , vol.50 , Issue.1 , pp. 33-42
    • Kirchhoff, M.1    Bisgaard, A.-M.2    Bryndorf, T.3    Gerdes, T.4
  • 39
    • 34447309023 scopus 로고    scopus 로고
    • A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
    • DOI 10.1016/j.ejmg.2007.05.001, PII S176972120700050X
    • Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M. 2007b. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 50:256-263. (Pubitemid 47058420)
    • (2007) European Journal of Medical Genetics , vol.50 , Issue.4 , pp. 256-263
    • Kirchhoff, M.1    Bisgaard, A.-M.2    Duno, M.3    Hansen, F.J.4    Schwartz, M.5
  • 44
    • 54049142123 scopus 로고    scopus 로고
    • Cytogenetic technology - Genotype and phenotype
    • Ledbetter D. 2008. Cytogenetic technology - Genotype and phenotype. N Engl J Med 359:1728-1730.
    • (2008) N Engl J Med , vol.359 , pp. 1728-1730
    • Ledbetter, D.1
  • 45
    • 34347361618 scopus 로고    scopus 로고
    • Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    • DOI 10.1038/ng2092, PII NG2092
    • Lee C, Iafrate AJ, Brothman AR. 2007. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 39:S48-S54. (Pubitemid 47014476)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • Lee, C.1    Iafrate, A.J.2    Brothman, A.R.3
  • 49
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski JR, Stankiewicz P. 2005.Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.
    • (2005) PLoS Genet , vol.1
    • Lupski, J.R.1    Stankiewicz, P.2
  • 54
    • 42949088032 scopus 로고    scopus 로고
    • Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly
    • Merritt JL, Lindor NM. 2008. Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly. Am J Med Genet Part A 146A:1055-1058.
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 1055-1058
    • Merritt, J.L.1    Lindor, N.M.2
  • 63
    • 0344466705 scopus 로고    scopus 로고
    • Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    • DOI 10.1097/01.GIM.0000095625.14160.AB
    • Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. 2003. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 5:430-434. (Pubitemid 37483411)
    • (2003) Genetics in Medicine , vol.5 , Issue.6 , pp. 430-434
    • Potocki, L.1    Shaw, C.J.2    Stankiewicz, P.3    Lupski, J.R.4
  • 68
    • 0032169436 scopus 로고    scopus 로고
    • Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization
    • DOI 10.1002/(SICI)1096-8628(19980901)79:2<82::AID-AJMG2>3.0.CO;2-P
    • Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH. 1998. Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization. Am J Med Genet 79:82-89. (Pubitemid 28433382)
    • (1998) American Journal of Medical Genetics , vol.79 , Issue.2 , pp. 82-89
    • Repetto, G.M.1    White, L.M.2    Bader, P.J.3    Johnson, D.4    Knoll, J.H.M.5
  • 70
    • 34347212196 scopus 로고    scopus 로고
    • Impact of severity of a child's chronic condition on the functioning of two-parent families
    • DOI 10.1093/jpepsy/jsl031
    • Rodrigues N, Patterson J. 2007. Impact of severity of a Child's chronic condition on the functioning of two-parent families. J Pediatr Psychol 32:417-426. (Pubitemid 47355679)
    • (2007) Journal of Pediatric Psychology , vol.32 , Issue.4 , pp. 417-426
    • Rodrigues, N.1    Patterson, J.M.2
  • 74
    • 33751551424 scopus 로고    scopus 로고
    • Medical applications of array CGH and the transformation of clinical cytogenetics
    • Shaffer LG, Bejjani BA. 2006. Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 115:303-309.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 303-309
    • Shaffer, L.G.1    Bejjani, B.A.2
  • 75
    • 0031004203 scopus 로고    scopus 로고
    • Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
    • Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. 1997. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am J Med Genet 69:325-331.
    • (1997) Am J Med Genet , vol.69 , pp. 325-331
    • Shaffer, L.G.1    Kennedy, G.M.2    Spikes, A.S.3    Lupski, J.R.4
  • 80
    • 33845966776 scopus 로고    scopus 로고
    • Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate
    • DOI 10.1002/ajmg.a.31445
    • Sivertsen A, Lie R, Wilcox A, Abyholm F, Vindenes H, Haukanes B, Houge G. 2007. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet Part A 143A:129-134. (Pubitemid 46047666)
    • (2007) American Journal of Medical Genetics, Part a , vol.143 , Issue.2 , pp. 129-134
    • Sivertsen, A.1    Lie, R.T.2    Wilcox, A.J.3    Abyholm, F.4    Vindenes, H.5    Haukanes, B.I.6    Houge, G.7
  • 83
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • DOI 10.1016/j.gde.2007.04.009, PII S0959437X07000743
    • Stankiewicz P, Beaudet AL. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182-192. (Pubitemid 46843553)
    • (2007) Current Opinion in Genetics and Development , vol.17 , Issue.3 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2
  • 86
    • 33845538699 scopus 로고    scopus 로고
    • Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus
    • Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. 2007. Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Eur J Hum Genet 15:62-67.
    • (2007) Eur J Hum Genet , vol.15 , pp. 62-67
    • Torniero, C.1    Dalla Bernardina, B.2    Novara, F.3    Vetro, A.4    Ricca, I.5    Darra, F.6    Pramparo, T.7    Guerrini, R.8    Zuffardi, O.9
  • 91
    • 33646521074 scopus 로고    scopus 로고
    • Comparative genomic hybridization and prenatal diagnosis
    • Van den Veyver IB, Beaudet AL. 2006. Comparative genomic hybridization and prenatal diagnosis. Curr Opin Obstet Gynecol 18:185-191.
    • (2006) Curr Opin Obstet Gynecol , vol.18 , pp. 185-191
    • Van Den Veyver, I.B.1    Beaudet, A.L.2
  • 99
    • 38349119197 scopus 로고    scopus 로고
    • Familial 22q11.2 duplication: A three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication
    • Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D. 2008. Familial 22q11.2 duplication: A three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin Genet 73:160-164....
    • (2008) Clin Genet , vol.73 , pp. 160-164
    • Yu, S.1    Cox, K.2    Friend, K.3    Smith, S.4    Buchheim, R.5    Bain, S.6    Liebelt, J.7    Thompson, E.8    Bratkovic, D.9


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