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Volumn 35, Issue 8, 2015, Pages 801-809

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

(25)  Grati, Francesca Romana a   Molina Gomes, Denise b   Ferreira, Jose Carlos Pinto B c   Dupont, Celine d   Alesi, Viola e   Gouas, Laetitia f   Horelli Kuitunen, Nina g   Choy, Kwong Wai h   García Herrero, Sandra i   de la Vega, Alberto Gonzalez j   Piotrowski, Krzysztof k   Genesio, Rita l   Queipo, Gloria m   Malvestiti, Barbara a   Hervé, Bérénice b,n   Benzacken, Brigitte d   Novelli, Antonio e   Vago, Philippe f   Piippo, Kirsi g   Leung, Tak Yeung h   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 21; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; DESCRIPTIVE RESEARCH; DIAGNOSTIC VALUE; DIGEORGE SYNDROME; ECHOGRAPHY; FEMALE; FETUS DEATH; FETUS HEART; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE; KARYOTYPING; LOW RISK POPULATION; MAJOR CLINICAL STUDY; MICRODELETION; MICRODUPLICATION; MOSAICISM; PHENOTYPE; PREGNANCY DISORDER; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RISK FACTOR; ADULT; CHROMOSOME DISORDERS; EVALUATION STUDY; FOLLOW UP; GENETICS; INCIDENCE; PREGNANCY; PREVALENCE; PROCEDURES; SENSITIVITY AND SPECIFICITY;

EID: 84938570204     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4613     Document Type: Article
Times cited : (249)

References (32)
  • 1
    • 84889598725 scopus 로고    scopus 로고
    • The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
    • Callaway JL, Shaffer LG, Chitty LS, et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 2013;33:1119-23.
    • (2013) Prenat Diagn , vol.33 , pp. 1119-1123
    • Callaway, J.L.1    Shaffer, L.G.2    Chitty, L.S.3
  • 2
    • 84870549609 scopus 로고    scopus 로고
    • Chromosomal microarray versus karyotyping for prenatal diagnosis
    • Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84.
    • (2012) N Engl J Med , vol.367 , pp. 2175-2184
    • Wapner, R.J.1    Martin, C.L.2    Levy, B.3
  • 3
    • 84866895022 scopus 로고    scopus 로고
    • Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
    • Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012;32:986-95.
    • (2012) Prenat Diagn , vol.32 , pp. 986-995
    • Shaffer, L.G.1    Rosenfeld, J.A.2    Dabell, M.P.3
  • 4
    • 84865123678 scopus 로고    scopus 로고
    • Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies
    • Lee CN, Lin SY, Lin CH, et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012;119:614-25.
    • (2012) BJOG , vol.119 , pp. 614-625
    • Lee, C.N.1    Lin, S.Y.2    Lin, C.H.3
  • 5
    • 84859494373 scopus 로고    scopus 로고
    • Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
    • Armengol L, Nevado J, Serra-Juhe C, et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2012;131:513-23.
    • (2012) Hum Genet , vol.131 , pp. 513-523
    • Armengol, L.1    Nevado, J.2    Serra-Juhe, C.3
  • 6
    • 79955683789 scopus 로고    scopus 로고
    • Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases
    • Park SJ, Jung EH, Ryu RS, et al. Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases. Mol Cytogenet 2011;4:12.
    • (2011) Mol Cytogenet , vol.4 , pp. 12
    • Park, S.J.1    Jung, E.H.2    Ryu, R.S.3
  • 7
    • 79954741750 scopus 로고    scopus 로고
    • Prenatal BACs-on-Beads: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis
    • Vialard F, Simoni G, Aboura A, et al. Prenatal BACs-on-Beads: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis. Prenat Diagn 2011;31:500-8.
    • (2011) Prenat Diagn , vol.31 , pp. 500-508
    • Vialard, F.1    Simoni, G.2    Aboura, A.3
  • 8
    • 84859147595 scopus 로고    scopus 로고
    • Prenatal BACs-on-Beads: the prospective experience of five prenatal diagnosis laboratories
    • Vialard F, Simoni G, Gomes DM, et al. Prenatal BACs-on-Beads: the prospective experience of five prenatal diagnosis laboratories. Prenat Diagn 2012;32:329-35.
    • (2012) Prenat Diagn , vol.32 , pp. 329-335
    • Vialard, F.1    Simoni, G.2    Gomes, D.M.3
  • 9
    • 79952213667 scopus 로고    scopus 로고
    • Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes
    • Gross SJ, Bajaj K, Garry D, et al. Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. Prenat Diagn 2011;31:259-66.
    • (2011) Prenat Diagn , vol.31 , pp. 259-266
    • Gross, S.J.1    Bajaj, K.2    Garry, D.3
  • 10
    • 84954597224 scopus 로고    scopus 로고
    • BACs-on-Beads (BoBs) assay for the genetic evaluation of prenatal samples and products of conception
    • Grati FR, Vialard F, Gross S. BACs-on-Beads (BoBs) assay for the genetic evaluation of prenatal samples and products of conception. Methods Mol Biol 2015;1227:259-78.
    • (2015) Methods Mol Biol , vol.1227 , pp. 259-278
    • Grati, F.R.1    Vialard, F.2    Gross, S.3
  • 11
    • 0032580377 scopus 로고    scopus 로고
    • Interval estimation for the difference between independent proportions: comparison of eleven methods
    • Newcombe RG. Interval estimation for the difference between independent proportions: comparison of eleven methods. Stat Med 1998;17:873-90.
    • (1998) Stat Med , vol.17 , pp. 873-890
    • Newcombe, R.G.1
  • 12
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011;43:838-46.
    • (2011) Nat Genet , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 13
    • 84893182999 scopus 로고    scopus 로고
    • American College of O, Gynecologists Committee on G. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis
    • American College of O, Gynecologists Committee on G. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013;122:1374-7.
    • (2013) Obstet Gynecol , vol.122 , pp. 1374-1377
  • 14
    • 0038419517 scopus 로고    scopus 로고
    • A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population
    • Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003;112:101-7.
    • (2003) Pediatrics , vol.112 , pp. 101-107
    • Botto, L.D.1    May, K.2    Fernhoff, P.M.3
  • 15
    • 0031671548 scopus 로고    scopus 로고
    • A population study of chromosome 22q11 deletions in infancy
    • Goodship J, Cross I, LiLing J, et al. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998;79:348-51.
    • (1998) Arch Dis Child , vol.79 , pp. 348-351
    • Goodship, J.1    Cross, I.2    LiLing, J.3
  • 16
    • 0031844288 scopus 로고    scopus 로고
    • The annual incidence of DiGeorge/velocardiofacial syndrome
    • Devriendt K, Fryns JP, Mortier G, et al. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998;35:789-90.
    • (1998) J Med Genet , vol.35 , pp. 789-790
    • Devriendt, K.1    Fryns, J.P.2    Mortier, G.3
  • 17
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
    • Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004;89:148-51.
    • (2004) Arch Dis Child , vol.89 , pp. 148-151
    • Oskarsdottir, S.1    Vujic, M.2    Fasth, A.3
  • 18
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
    • Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804.
    • (1997) J Med Genet , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3
  • 19
    • 35348822545 scopus 로고    scopus 로고
    • Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
    • Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007;370:1443-52.
    • (2007) Lancet , vol.370 , pp. 1443-1452
    • Kobrynski, L.J.1    Sullivan, K.E.2
  • 20
    • 84898789627 scopus 로고    scopus 로고
    • A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
    • Besseau-Ayasse J, Violle-Poirsier C, Bazin A, et al. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes. Prenat Diagn 2014;34:424-30.
    • (2014) Prenat Diagn , vol.34 , pp. 424-430
    • Besseau-Ayasse, J.1    Violle-Poirsier, C.2    Bazin, A.3
  • 21
    • 42149193191 scopus 로고    scopus 로고
    • Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
    • Ou Z, Berg JS, Yonath H, et al. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 2008;10:267-77.
    • (2008) Genet Med , vol.10 , pp. 267-277
    • Ou, Z.1    Berg, J.S.2    Yonath, H.3
  • 22
    • 84864424160 scopus 로고    scopus 로고
    • Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood
    • Van Campenhout S, Devriendt K, Breckpot J, et al. Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. Genet Couns 2012;23:135-48.
    • (2012) Genet Couns , vol.23 , pp. 135-148
    • Van Campenhout, S.1    Devriendt, K.2    Breckpot, J.3
  • 23
    • 84938638623 scopus 로고    scopus 로고
    • Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations
    • Dupont C, Grati FR, Choy KW, et al. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations. Prenat Diagn 2014.
    • (2014) Prenat Diagn
    • Dupont, C.1    Grati, F.R.2    Choy, K.W.3
  • 24
    • 0034161932 scopus 로고    scopus 로고
    • Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
    • Shaikh TH, Kurahashi H, Saitta SC, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 2000;9:489-501.
    • (2000) Hum Mol Genet , vol.9 , pp. 489-501
    • Shaikh, T.H.1    Kurahashi, H.2    Saitta, S.C.3
  • 25
    • 84938568469 scopus 로고    scopus 로고
    • Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome
    • Marcato L, Turolla L, Pompilii E, et al. Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome. Clin Case Rep 2014;2:25-32.
    • (2014) Clin Case Rep , vol.2 , pp. 25-32
    • Marcato, L.1    Turolla, L.2    Pompilii, E.3
  • 26
    • 85027919416 scopus 로고    scopus 로고
    • Diagnostic accuracy of the BACs-on-Beads assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series
    • Choy K, Kwok Y, Cheng Y, et al. Diagnostic accuracy of the BACs-on-Beads assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series. BJOG 2014.
    • (2014) BJOG
    • Choy, K.1    Kwok, Y.2    Cheng, Y.3
  • 27
    • 33947237911 scopus 로고    scopus 로고
    • Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis
    • Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet 2007;145C:87-98.
    • (2007) Am J Med Genet C Semin Med Genet , vol.145C , pp. 87-98
    • Shaffer, L.G.1    Bui, T.H.2
  • 28
    • 84856004025 scopus 로고    scopus 로고
    • Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies
    • Langlois S, Duncan A. Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies. J Obstet Gynaecol Can 2011;33:955-60.
    • (2011) J Obstet Gynaecol Can , vol.33 , pp. 955-960
    • Langlois, S.1    Duncan, A.2
  • 29
    • 84893532527 scopus 로고    scopus 로고
    • Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
    • Cheung EN, George SR, Andrade DM, et al. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genet Med 2014;16:40-4.
    • (2014) Genet Med , vol.16 , pp. 40-44
    • Cheung, E.N.1    George, S.R.2    Andrade, D.M.3
  • 31
    • 0035746391 scopus 로고    scopus 로고
    • Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
    • McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 2001;3:23-9.
    • (2001) Genet Med , vol.3 , pp. 23-29
    • McDonald-McGinn, D.M.1    Tonnesen, M.K.2    Laufer-Cahana, A.3
  • 32
    • 79960444931 scopus 로고    scopus 로고
    • Practical guidelines for managing patients with 22q11.2 deletion syndrome
    • e1.
    • Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011;159:332-9.e1.
    • (2011) J Pediatr , vol.159 , pp. 332-339
    • Bassett, A.S.1    McDonald-McGinn, D.M.2    Devriendt, K.3


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