메뉴 건너뛰기




Volumn 7, Issue 1, 2014, Pages

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities

Author keywords

Array comparative genomic hybridization (ACGH); Cytogenomic abnormalities; Multiplex ligation dependent probe amplification (MLPA); Prenatal diagnosis

Indexed keywords

ANEUPLOIDY; ARTICLE; CAT CRY SYNDROME; CHROMOSOME; CHROMOSOME 3Q21.1; CHROMOSOME 3Q25.1; CHROMOSOME 5P15.33; CHROMOSOME 7Q11.23; CHROMOSOME 7Q21.3; CHROMOSOME 7Q33; CHROMOSOME 7Q36.3; CHROMOSOME 8Q22.3; CHROMOSOME 8Q24.3; CHROMOSOME BAND; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DPYS GENE; ECTRODACTYLY; FEMALE; FETUS ECHOGRAPHY; FIBROBLAST CULTURE; GENE; GENETIC COUNSELING; GENETIC DISORDER; GESTATIONAL AGE; HUMAN; JACOBSEN SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUP205 GENE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING TEST; SEC22A GENE; SH3BP4 GENE; SUCNR1 GENE; TRISOMY; TRISOMY 2; TRISOMY 21; UGT1A8 GENE; VIPR2 GENE; ZNF16 GENE;

EID: 84989238666     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-014-0084-5     Document Type: Article
Times cited : (13)

References (39)
  • 2
    • 3042531626 scopus 로고    scopus 로고
    • Changes in the utilization of prenatal diagnosis
    • Benn PA, Egan JF, Fang M, Smith-Bindman R: Changes in the utilization of prenatal diagnosis. Obstet Gynecol 2004, 103(6):1255-1260.
    • (2004) Obstet Gynecol , vol.103 , Issue.6 , pp. 1255-1260
    • Benn, P.A.1    Egan, J.F.2    Fang, M.3    Smith-Bindman, R.4
  • 3
    • 79959518654 scopus 로고    scopus 로고
    • Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization
    • Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ: Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am J Med Genet 2011, 155A(7):1605-1615.
    • (2011) Am J Med Genet , vol.155 A , Issue.7 , pp. 1605-1615
    • Li, P.1    Pomianowski, P.2    DiMaio, M.S.3    Florio, J.R.4    Rossi, M.R.5    Xiang, B.6    Xu, F.7    Yang, H.8    Geng, Q.9    Xie, J.10    Mahoney, M.J.11
  • 4
    • 84936851972 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis: A comparison of cell free fetal DNA (cffDNA) based screening and fetal nucleated red blood cell (fnRBC) initiated testing
    • Xu Z, Xie J, Meng J, Li P, Pan X, Zhou Q: Non-invasive prenatal diagnosis: A comparison of cell free fetal DNA (cffDNA) based screening and fetal nucleated red blood cell (fnRBC) initiated testing. N A J Med Sci 2013, 6(4):194-199.
    • (2013) N A J Med Sci , vol.6 , Issue.4 , pp. 194-199
    • Xu, Z.1    Xie, J.2    Meng, J.3    Li, P.4    Pan, X.5    Zhou, Q.6
  • 5
    • 0026907046 scopus 로고
    • Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells
    • Ried T, Landes G, Dackowski W, Klinger K, Ward DC: Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells. Hum Mol Genet 1992, 1(5):307-313.
    • (1992) Hum Mol Genet , vol.1 , Issue.5 , pp. 307-313
    • Ried, T.1    Landes, G.2    Dackowski, W.3    Klinger, K.4    Ward, D.C.5
  • 6
    • 0031473005 scopus 로고    scopus 로고
    • Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction
    • Adinolfi M, Pertl B, Sherlock J: Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn 1997, 17(13):1299-1311.
    • (1997) Prenat Diagn , vol.17 , Issue.13 , pp. 1299-1311
    • Adinolfi, M.1    Pertl, B.2    Sherlock, J.3
  • 7
    • 84892415873 scopus 로고    scopus 로고
    • Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis
    • Kooper AJ, Faas BH, Feenstra I, de Leeuw N, Smeets DF: Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis. Mol Cytogenet 2014, 7(1):6.
    • (2014) Mol Cytogenet , vol.7 , Issue.1 , pp. 6
    • Kooper, A.J.1    Faas, B.H.2    Feenstra, I.3    De Leeuw, N.4    Smeets, D.F.5
  • 8
    • 1642544630 scopus 로고    scopus 로고
    • Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)
    • Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KH: Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 2003, 40(12):907-912.
    • (2003) J Med Genet , vol.40 , Issue.12 , pp. 907-912
    • Slater, H.R.1    Bruno, D.L.2    Ren, H.3    Pertile, M.4    Schouten, J.P.5    Choo, K.H.6
  • 9
    • 33947609005 scopus 로고    scopus 로고
    • Detection of subtelomere imbalance using MLPA: Validation, development of an analysis protocol, and application in a diagnostic centre
    • Ahn JW, Ogilvie CM, Welch A, Thomas H, Madula R, Hills A, Donaghue C, Mann K: Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet 2007, 8:9.
    • (2007) BMC Med Genet , vol.8 , pp. 9
    • Ahn, J.W.1    Ogilvie, C.M.2    Welch, A.3    Thomas, H.4    Madula, R.5    Hills, A.6    Donaghue, C.7    Mann, K.8
  • 10
    • 77957366038 scopus 로고    scopus 로고
    • Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances
    • Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M: Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances. Prenat Diagn 2010, 30(10):995-999.
    • (2010) Prenat Diagn , vol.30 , Issue.10 , pp. 995-999
    • Kjaergaard, S.1    Sundberg, K.2    Jørgensen, F.S.3    Rohde, M.D.4    Lind, A.M.5    Gerdes, T.6    Tabor, A.7    Kirchhoff, M.8
  • 11
    • 79956283262 scopus 로고    scopus 로고
    • Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis
    • Konialis C, Hagnefelt B, Sevastidou S, Karapanou S, Pispili K, Markaki A, Pangalos C: Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis. Prenat Diagn 2011, 31(6):571-577.
    • (2011) Prenat Diagn , vol.31 , Issue.6 , pp. 571-577
    • Konialis, C.1    Hagnefelt, B.2    Sevastidou, S.3    Karapanou, S.4    Pispili, K.5    Markaki, A.6    Pangalos, C.7
  • 12
    • 49649099543 scopus 로고    scopus 로고
    • Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
    • Xiang B, Li A, Valentin D, Novak N, Zhao H-Y, Li P: Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet 2008, 146A(15):1942-1954.
    • (2008) Am J Med Genet , vol.146 A , Issue.15 , pp. 1942-1954
    • Xiang, B.1    Li, A.2    Valentin, D.3    Novak, N.4    Zhao, H.-Y.5    Li, P.6
  • 14
    • 84892389853 scopus 로고    scopus 로고
    • Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectural disabilities
    • Xu F, Li L, Schulz VP, Gallager PG, Xiang B, Zhao HY, Li P: Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectural disabilities. Mol Cytogenet 2014, 7(1):4.
    • (2014) Mol Cytogenet , vol.7 , Issue.1 , pp. 4
    • Xu, F.1    Li, L.2    Schulz, V.P.3    Gallager, P.G.4    Xiang, B.5    Zhao, H.Y.6    Li, P.7
  • 15
    • 72149094033 scopus 로고    scopus 로고
    • Wholegenome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    • Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG: Wholegenome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn 2009, 29(12):1156-1166.
    • (2009) Prenat Diagn , vol.29 , Issue.12 , pp. 1156-1166
    • Coppinger, J.1    Alliman, S.2    Lamb, A.N.3    Torchia, B.S.4    Bejjani, B.A.5    Shaffer, L.G.6
  • 17
    • 84866174650 scopus 로고    scopus 로고
    • Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies
    • Filges I, Kang A, Klug V, Wenzel F, Heinimann K, Tercanli S, Miny P: Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies. Mol Cytogenet 2012, 5(1):38.
    • (2012) Mol Cytogenet , vol.5 , Issue.1 , pp. 38
    • Filges, I.1    Kang, A.2    Klug, V.3    Wenzel, F.4    Heinimann, K.5    Tercanli, S.6    Miny, P.7
  • 18
    • 84873058081 scopus 로고    scopus 로고
    • Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation
    • Wei Y, Xu F, Li P: Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation. J Genet Genomics 2013, 40(1):1-12.
    • (2013) J Genet Genomics , vol.40 , Issue.1 , pp. 1-12
    • Wei, Y.1    Xu, F.2    Li, P.3
  • 21
    • 37549066344 scopus 로고    scopus 로고
    • Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3)
    • Hodge JC, Lawson-Yuen A, Stoler JM, Ligon AH: Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3). Cytogenet Genome Res 2007, 119(1-2):15-20.
    • (2007) Cytogenet Genome Res , vol.119 , Issue.1-2 , pp. 15-20
    • Hodge, J.C.1    Lawson-Yuen, A.2    Stoler, J.M.3    Ligon, A.H.4
  • 23
    • 0035011117 scopus 로고    scopus 로고
    • Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts
    • Chen CP, Chern SR, Tzen CY, Lee MS, Pan CW, Chang TY, Wang W: Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts. Prenat Diagn 2001, 21(4):317-320.
    • (2001) Prenat Diagn , vol.21 , Issue.4 , pp. 317-320
    • Chen, C.P.1    Chern, S.R.2    Tzen, C.Y.3    Lee, M.S.4    Pan, C.W.5    Chang, T.Y.6    Wang, W.7
  • 26
    • 34250029824 scopus 로고    scopus 로고
    • Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome)
    • Foley P, McAuliffe F, Mullarkey M, Reardon W: Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). Clin Dysmorphol 2007, 16(3):177-179.
    • (2007) Clin Dysmorphol , vol.16 , Issue.3 , pp. 177-179
    • Foley, P.1    McAuliffe, F.2    Mullarkey, M.3    Reardon, W.4
  • 27
    • 0035060991 scopus 로고    scopus 로고
    • First trimester diagnosis of split hand/foot by transvaginal ultrasound
    • Haak MC, Cobben JM, van Vugt JMG: First trimester diagnosis of split hand/foot by transvaginal ultrasound. Fetal Diagn Ther 2001, 16:146-149.
    • (2001) Fetal Diagn Ther , vol.16 , pp. 146-149
    • Haak, M.C.1    Cobben, J.M.2    Van Vugt, J.M.G.3
  • 28
    • 74749105596 scopus 로고    scopus 로고
    • First-trimester diagnosis of familial split-hand/split-foot malformation
    • Ram KT, Goffman D, Ilagan J, Dar P: First-trimester diagnosis of familial split-hand/split-foot malformation. J Ultrasound Med 2009, 28(10):1397-1400.
    • (2009) J Ultrasound Med , vol.28 , Issue.10 , pp. 1397-1400
    • Ram, K.T.1    Goffman, D.2    Ilagan, J.3    Dar, P.4
  • 30
    • 84892415672 scopus 로고    scopus 로고
    • Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies
    • Lu J, Vaidya N, Meng H, Dai Q, Romine LE, Jones MC, Pretorius DH: Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. J Ultrasound Med 2014, 33(1):167-176.
    • (2014) J Ultrasound Med , vol.33 , Issue.1 , pp. 167-176
    • Lu, J.1    Vaidya, N.2    Meng, H.3    Dai, Q.4    Romine, L.E.5    Jones, M.C.6    Pretorius, D.H.7
  • 31
    • 0032942961 scopus 로고    scopus 로고
    • Antenatal sonographic features of cri-du-chat syndrome
    • Aoki S, Hata T, Hata K, Miyazaka K: Antenatal sonographic features of cri-du-chat syndrome. Ultrasound Obstet Gynecol 1999, 13(3):216-221.
    • (1999) Ultrasound Obstet Gynecol , vol.13 , Issue.3 , pp. 216-221
    • Aoki, S.1    Hata, T.2    Hata, K.3    Miyazaka, K.4
  • 32
    • 0036168169 scopus 로고    scopus 로고
    • Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly
    • Stefanou EGG, Hanna G, Foakes A, Crocker M, Fitchett M: Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn 2002, 22:64-66.
    • (2002) Prenat Diagn , vol.22 , pp. 64-66
    • Stefanou, E.G.G.1    Hanna, G.2    Foakes, A.3    Crocker, M.4    Fitchett, M.5
  • 33
    • 1042267315 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic distal 5p deletion and review of literature
    • Chen CP, Lee CC, Chang TY, Town DD, Wang W: Prenatal diagnosis of mosaic distal 5p deletion and review of literature. Prenat Diagn 2004, 24:50-57.
    • (2004) Prenat Diagn , vol.24 , pp. 50-57
    • Chen, C.P.1    Lee, C.C.2    Chang, T.Y.3    Town, D.D.4    Wang, W.5
  • 34
    • 26844440666 scopus 로고    scopus 로고
    • Prenatal diagnosis of Cri du Chat syndrome with encephalocele
    • Bakkum JN, Watson WJ, Johansen KL, Brost BC: Prenatal diagnosis of Cri du Chat syndrome with encephalocele. Am J Perinatol 2005, 22(7):351-352.
    • (2005) Am J Perinatol , vol.22 , Issue.7 , pp. 351-352
    • Bakkum, J.N.1    Watson, W.J.2    Johansen, K.L.3    Brost, B.C.4
  • 36
    • 67149132152 scopus 로고    scopus 로고
    • Prenatal diagnosis of cri-du-chat syndrome: Importance of ultrasonographical markers
    • Teoh XH, Tan TY, Chow KK, Lee IW: Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. Sigapore Med J 2009, 50(5):e181-e184.
    • (2009) Sigapore Med J , vol.50 , Issue.5 , pp. e181-e184
    • Teoh, X.H.1    Tan, T.Y.2    Chow, K.K.3    Lee, I.W.4
  • 38
    • 0033744873 scopus 로고    scopus 로고
    • EUROSCAN study group: Evaluation of the prenatal diagnosis of limb reduction deficiencies
    • Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M, EUROSCAN study group: Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenat Diagn 2000, 20:811-818.
    • (2000) Prenat Diagn , vol.20 , pp. 811-818
    • Stoll, C.1    Wiesel, A.2    Queisser-Luft, A.3    Froster, U.4    Bianca, S.5    Clementi, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.