메뉴 건너뛰기




Volumn 4, Issue 1, 2011, Pages

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTROMERE; CHROMOSOME ANALYSIS; CHROMOSOME MARKER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEQUENCE ANALYSIS; TELOMERE;

EID: 78651353612     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-4-2     Document Type: Article
Times cited : (13)

References (40)
  • 1
    • 0023153251 scopus 로고
    • Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies
    • DOI 10.1002/pd.1970070204
    • Marker chromosomes in a series of 10 000 prenatal diagnoses. Cytogenetic and follow-up studies. ES Sachs JO Van Hemel JC den Hollander MGJ Jahoda, Prenat Diagn (Pubitemid 17037105)
    • (1987) Prenatal Diagnosis , vol.7 , Issue.2 , pp. 81-89
    • Sachs, E.S.1    Van Hemel, J.O.2    Den Hollander, J.C.3    Jahoda, M.G.J.4
  • 3
    • 0028843747 scopus 로고
    • Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis
    • 8522323
    • Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. J Müller-Navia A Nebel E Schleiermacher, Hum Genet 1995 96 6 661 667 8522323
    • (1995) Hum Genet , vol.96 , Issue.6 , pp. 661-667
    • Müller-Navia, J.1    Nebel, A.2    Schleiermacher, E.3
  • 4
    • 0029004732 scopus 로고
    • A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples
    • 8532620
    • A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples. K Brøndum-Nielsen M Mikkelsen, Prenat Diagn 1995 15 7 615 619 8532620
    • (1995) Prenat Diagn , vol.15 , Issue.7 , pp. 615-619
    • Brøndum-Nielsen, K.1    Mikkelsen, M.2
  • 5
    • 13344294391 scopus 로고    scopus 로고
    • Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study
    • DOI 10.1002/(SICI)1097-0223(199601)16:1<1::AID-PD816>3.0.CO;2-W
    • Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. LY Hsu MT Yu KE Richkind DL Van Dyke BF Crandall DF Saxe GS Khodr M Mennuti G Stetten WA Miller JH Priest, Prenat Diagn 1996 16 1 1 28 10.1002/(SICI)1097-0223(199601)16:1<1::AID-PD816 3.0.CO;2-W 8821848 (Pubitemid 26029867)
    • (1996) Prenatal Diagnosis , vol.16 , Issue.1 , pp. 1-28
    • Hsu, L.Y.F.1    Yu, M.-T.2    Richkind, K.E.3    Van Dyke, D.L.4    Crandall, B.F.5    Saxe, D.F.6    Khodr, G.S.7    Mennuti, M.8    Stetten, G.9    Miller, W.A.10    Priest, J.H.11
  • 6
    • 0036796014 scopus 로고    scopus 로고
    • Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): Coincidence or consequence? [8]
    • Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? D Kotzot, J Med Genet 2002 39 10 775 778 10.1136/jmg.39.10.775 12362039 (Pubitemid 35178732)
    • (2002) Journal of Medical Genetics , vol.39 , Issue.10 , pp. 775-778
    • Kotzot, D.1
  • 7
    • 34248544965 scopus 로고    scopus 로고
    • Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
    • 17390076
    • Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. T Liehr A Weise, Int J Mol Med 2007 19 5 719 731 17390076
    • (2007) Int J Mol Med , vol.19 , Issue.5 , pp. 719-731
    • Liehr, T.1    Weise, A.2
  • 8
    • 17744374774 scopus 로고    scopus 로고
    • A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH)
    • DOI 10.1007/s004390100459
    • A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). A Nietzel M Rocchi H Starke A Heller W Fiedler I Wlodarska IF Loncarevic V Beensen U Claussen T Liehr, Hum Genet 2001 108 3 199 204 10.1007/s004390100459 11354630 (Pubitemid 32293665)
    • (2001) Human Genetics , vol.108 , Issue.3 , pp. 199-204
    • Nietzel, A.1    Rocchi, M.2    Starke, H.3    Heller, A.4    Fiedler, W.5    Wlodarska, I.6    Loncarevic, I.F.7    Beensen, V.8    Claussen, U.9    Liehr, T.10
  • 12
    • 14744281150 scopus 로고    scopus 로고
    • Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences
    • DOI 10.1002/pd.1097
    • Mosaic trisomy (8)(p22 - > pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences. JM de Pater HY Kroes M Verschuren AC van Oppen JC Albrechts JJ Engelen, Prenat Diagn 2005 25 2 151 155 10.1002/pd.1097 15712342 (Pubitemid 40327397)
    • (2005) Prenatal Diagnosis , vol.25 , Issue.2 , pp. 151-155
    • De Pater, J.M.1    Kroes, H.Y.2    Verschuren, M.3    Van Oppen, A.C.C.4    Albrechts, J.C.M.5    Engelen, J.J.M.6
  • 14
    • 0029912473 scopus 로고    scopus 로고
    • Karyotyping human chromosomes by combinatorial multi-fluor FISH
    • DOI 10.1038/ng0496-368
    • Karyotyping human chromosomes by combinatorial multi-fluor FISH. MR Speicher S Gwyn Ballard DC Ward, Nat Genet 1996 12 4 368 375 10.1038/ng0496-368 8630489 (Pubitemid 26105926)
    • (1996) Nature Genetics , vol.12 , Issue.4 , pp. 368-375
    • Speicher, M.R.1    Ballard, S.G.2    Ward, D.C.3
  • 15
    • 34247100199 scopus 로고    scopus 로고
    • Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH
    • DOI 10.1097/GIM.0b013e3180312087, PII 0012581720070300000002
    • Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. BC Ballif SA Hornor SG Sulpizio RM Lloyd SL Minier EA Rorem A Theisen BA Bejjani LG Shaffer, Genet Med 2007 9 3 150 162 10.1097/GIM.0b013e3180312087 17413419 (Pubitemid 46597712)
    • (2007) Genetics in Medicine , vol.9 , Issue.3 , pp. 150-162
    • Ballif, B.C.1    Hornor, S.A.2    Sulpizio, S.G.3    Lloyd, R.M.4    Minier, S.L.5    Rorem, E.A.6    Theisen, A.7    Bejjani, B.A.8    Shaffer, L.G.9
  • 16
    • 48849108010 scopus 로고    scopus 로고
    • Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    • 10.1097/GIM.0b013e318177015c. 18496225
    • Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. EL Baldwin JY Lee DM Blake BP Bunke CR Alexander AL Kogan DH Ledbetter CL Martin, Genet Med 2008 10 6 415 429 10.1097/GIM.0b013e318177015c 18496225
    • (2008) Genet Med , vol.10 , Issue.6 , pp. 415-429
    • Baldwin, E.L.1    Lee, J.Y.2    Blake, D.M.3    Bunke, B.P.4    Alexander, C.R.5    Kogan, A.L.6    Ledbetter, D.H.7    Martin, C.L.8
  • 18
    • 0017870782 scopus 로고
    • Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A
    • DOI 10.1016/0014-4827(78)90177-5
    • Modification of DAPI banding on human chromosomes by prestainig with a DNA binding oligopeptide, distamycin A. D Schweitzer P Ambros M Andrle, Exp Cell Res 1978 111 327 332 10.1016/0014-4827(78)90177-5 75107 (Pubitemid 8307849)
    • (1978) Experimental Cell Research , vol.111 , Issue.2 , pp. 327-332
    • Schweizer, D.1    Ambros, P.2    Andrle, M.3
  • 20
    • 0024580708 scopus 로고
    • Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-term cultivation time
    • DOI 10.1002/pd.1970090503
    • Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-term cultivation time. S Smidt-Jensen B Christensen AM Lind, Prenat Diagn 1989 9 5 309 319 10.1002/pd.1970090503 2657708 (Pubitemid 19117327)
    • (1989) Prenatal Diagnosis , vol.9 , Issue.5 , pp. 309-319
    • Smidt-Jensen, S.1    Christensen, B.2    Lind, A.-M.3
  • 21
    • 57649228924 scopus 로고    scopus 로고
    • Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: A prospective study of 4000 amniotic fluid samples
    • 10.1038/ejhg.2008.161. 18781187
    • Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. D Van Opstal M Boter D de Jong C van den Berg HT Brüggenwirth HIJ Wildschut A de Klein R-JH Galjaard, Eur J Hum Genet 2009 17 112 121 10.1038/ejhg.2008.161 18781187
    • (2009) Eur J Hum Genet , vol.17 , pp. 112-121
    • Van Opstal, D.1    Boter, M.2    De Jong, D.3    Van Den Berg, C.4    Brüggenwirth, H.T.5    Wildschut, H.I.J.6    De Klein, A.7    R-Jh, G.8
  • 24
    • 66449089327 scopus 로고    scopus 로고
    • Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
    • 10.1186/1755-8166-1-7. 18471320
    • Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. KD Tsuchiya KE Opheim MC Hannibal AV Hing IA Glass ML Raff T Norwood BA Torchia, Mol Cytogenet 2008 1 7 10.1186/1755-8166-1-7 18471320
    • (2008) Mol Cytogenet , vol.1 , pp. 7
    • Tsuchiya, K.D.1    Opheim, K.E.2    Hannibal, M.C.3    Hing, A.V.4    Glass, I.A.5    Raff, M.L.6    Norwood, T.7    Torchia, B.A.8
  • 25
    • 79751531473 scopus 로고
    • Emanuel Syndrome
    • Seattle (WA): University of Washington, Seattle Pagon RA, Bird TC, Dolan CR, Stephens K. [updated 2010 May 11]
    • Emanuel Syndrome. L Medne EH Zackai BS Emanuel, GeneReviews [Internet] Seattle (WA): University of Washington, Seattle, Pagon RA, Bird TC, Dolan CR, Stephens K, 1993 [updated 2010 May 11]
    • (1993) GeneReviews [Internet]
    • Medne, L.1    Zackai, E.H.2    Emanuel, B.S.3
  • 27
    • 77955296124 scopus 로고    scopus 로고
    • Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome
    • 10.1002/ajmg.a.33483. 20602489
    • Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome. NL Hoppman-Chaney DB Dawson L Nguyen S Sengupta K Reynolds E McPherson G Velagaleti, Am J Med Genet A 2010 152A 8 2034 2038 10.1002/ajmg.a.33483 20602489
    • (2010) Am J Med Genet A , vol.152 , Issue.8 , pp. 2034-2038
    • Hoppman-Chaney, N.L.1    Dawson, D.B.2    Nguyen, L.3    Sengupta, S.4    Reynolds, K.5    McPherson, E.6    Velagaleti, G.7
  • 30
    • 13544262673 scopus 로고    scopus 로고
    • Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited
    • DOI 10.1038/sj.ejhg.5201311
    • Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. JA Crolla SA Youings S Ennis PA Jacobs, Eur J Hum Genet 2005 13 2 154 160 10.1038/sj.ejhg.5201311 15508017 (Pubitemid 40220558)
    • (2005) European Journal of Human Genetics , vol.13 , Issue.2 , pp. 154-160
    • Crolla, J.A.1    Youings, S.A.2    Ennis, S.3    Jacobs, P.A.4
  • 35
    • 0035099754 scopus 로고    scopus 로고
    • Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results
    • 10.1002/1097-0223(200102)21:2<75::AID-PD990 3.0.CO;2-B. 11241529
    • Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results. D Van Opstal C van den Berg RJ Galjaard FJ Los, Prenat Diagn 2001 21 2 75 80 10.1002/1097-0223(200102)21:2<75::AID-PD990 3.0.CO;2-B 11241529
    • (2001) Prenat Diagn , vol.21 , Issue.2 , pp. 75-80
    • Van Opstal, D.1    Van Den Berg, C.2    Galjaard, R.J.3    Los, F.J.4
  • 37
    • 0019966986 scopus 로고
    • Chromosomal localization of human cellular homologues of two viral oncogenes
    • DOI 10.1038/299747a0
    • Chromosomal localization of human cellular homologues of two viral oncogenes. N Heisterkamp J Groffen JR Stephenson NK Spurr PN Goodfellow E Solomon B Carritt WF Bodmer, Nature 1982 299 5885 747 749 10.1038/299747a0 7121606 (Pubitemid 12037764)
    • (1982) Nature , vol.299 , Issue.5885 , pp. 747-749
    • Heisterkamp, N.1    Groffen, J.2    Stephenson, J.R.3
  • 38
    • 33947683902 scopus 로고    scopus 로고
    • Distribution of the D15Z1 copy number polymorphism
    • DOI 10.1038/sj.ejhg.5201780, PII 5201780
    • Distribution of the D15Z1 copy number polymorphism. AE Cockwell PA Jacobs JA Crolla, Eur J Hum Genet 2007 15 441 445 10.1038/sj.ejhg.5201780 17311084 (Pubitemid 46499173)
    • (2007) European Journal of Human Genetics , vol.15 , Issue.4 , pp. 441-445
    • Cockwell, A.E.1    Jacobs, P.A.2    Crolla, J.A.3
  • 40
    • 0027440149 scopus 로고
    • Application of fluorescent in situ hybridization for 'de novo' anomalies in prenatal diagnosis
    • Application of fluorescent in situ hybridization for 'de novo' anomalies in prenatal diagnosis. D Van Opstal HJ Eussen JO Van Hemel ES Sachs, Prenat Diagn 1993 13 9 825 832 10.1002/pd.1970130906 8278313 (Pubitemid 23297734)
    • (1993) Prenatal Diagnosis , vol.13 , Issue.9 , pp. 825-832
    • Van Opstal, D.1    Eussen, H.J.2    Van Hemel, J.O.3    Sachs, E.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.