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Volumn 3, Issue 1, 1999, Pages 11-14

Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH

Author keywords

Down syndrome; Interphase FISH; Translocation trisomy dup(21q); Trisomy 21

Indexed keywords

AMNION FLUID; ARTICLE; CELL NUCLEUS; CHROMOSOME 21; CYTOLOGY; DNA PROBE; FEMALE; FETUS DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; GENETICS; HUMAN; INTERPHASE; METABOLISM; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 0032615268     PISSN: 11073756     EISSN: None     Source Type: Journal    
DOI: 10.3892/ijmm.3.1.11     Document Type: Article
Times cited : (9)

References (18)
  • 1
    • 0031947644 scopus 로고    scopus 로고
    • Study of Down syndrome in 238,942 consecutive births
    • Stoll C, Alembik Y, Dott B and Roth MP: Study of Down syndrome in 238,942 consecutive births. Ann Genet 41: 44-51, 1998.
    • (1998) Ann Genet , vol.41 , pp. 44-51
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Roth, M.P.4
  • 2
    • 0023007668 scopus 로고
    • Translocation Down syndrome in Ohio 1970-1981: Epidemiologic and cytogenetic factors and mutation rate estimates
    • Pulliam L-H and Huether CA: Translocation Down syndrome in Ohio 1970-1981: epidemiologic and cytogenetic factors and mutation rate estimates. Am J Hum Genet 39: 361-370, 1986.
    • (1986) Am J Hum Genet , vol.39 , pp. 361-370
    • Pulliam, L.-H.1    Huether, C.A.2
  • 3
    • 0030928266 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21)(p13.3;q21)
    • Chcn CP, Lin CC, Chuang CY, Lee CC, Chen WL, Jan SW and Lin SP: Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21)(p13.3;q21). Prenat Diagn 17: 675-680, 1997.
    • (1997) Prenat Diagn , vol.17 , pp. 675-680
    • Chcn, C.P.1    Lin, C.C.2    Chuang, C.Y.3    Lee, C.C.4    Chen, W.L.5    Jan, S.W.6    Lin, S.P.7
  • 4
    • 0030481871 scopus 로고    scopus 로고
    • Down syndrome with unusual chromosome translocation: Case report and review
    • Bruni L, Capolino R, Tozzi MC, Colloridi F and Smacchia MP: Down syndrome with unusual chromosome translocation: case report and review. Ann Genet 39: 240-242, 1996.
    • (1996) Ann Genet , vol.39 , pp. 240-242
    • Bruni, L.1    Capolino, R.2    Tozzi, M.C.3    Colloridi, F.4    Smacchia, M.P.5
  • 6
    • 0003815152 scopus 로고    scopus 로고
    • Chromosome abnormalities and genetic counseling
    • Oxford University Press, New York, Oxford
    • Gardner RJM and Sutherland GR: Chromosome abnormalities and genetic counseling. In: Oxford Monographs on Medical Genetics. No. 29. Oxford University Press, New York, Oxford, 1996.
    • (1996) Oxford Monographs on Medical Genetics , vol.29
    • Gardner, R.J.M.1    Sutherland, G.R.2
  • 7
    • 0027451806 scopus 로고
    • Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome
    • Shaffer LJ, McCackill C, Haller V, Brown JA and JacksonCook CK: Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome. Am J Med Genet 47: 1218-1222, 1993.
    • (1993) Am J Med Genet , vol.47 , pp. 1218-1222
    • Shaffer, L.J.1    McCackill, C.2    Haller, V.3    Brown, J.A.4    Jacksoncook, C.K.5
  • 8
    • 0025221059 scopus 로고
    • Analysis of DNA polymorphisms suggest that most of de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations
    • Antonarakis SE, Adelsbcrger PA, Petersen MB, Binkert F and Schinzel AA: Analysis of DNA polymorphisms suggest that most of de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet 47: 968-972, 1990.
    • (1990) Am J Hum Genet , vol.47 , pp. 968-972
    • Antonarakis, S.E.1    Adelsbcrger, P.A.2    Petersen, M.B.3    Binkert, F.4    Schinzel, A.A.5
  • 11
    • 0028676251 scopus 로고
    • Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (FISH)
    • Philip J, Bryndorf T and Christensen GM: Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (FISH). Prenat Diagn 14: 1203-1215, 1994:
    • (1994) Prenat Diagn , vol.14 , pp. 1203-1215
    • Philip, J.1    Bryndorf, T.2    Christensen, G.M.3
  • 12
    • 0028149132 scopus 로고
    • Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: A prospective study
    • Spathas DH, Divane A, Maniatis GM, Ferguson-Smith ME and Ferguson-Smith MA: Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: a prospective study. Prenat Diagn 14: 1049-1054, 1994.
    • (1994) Prenat Diagn , vol.14 , pp. 1049-1054
    • Spathas, D.H.1    Divane, A.2    Maniatis, G.M.3    Ferguson-Smith, M.E.4    Ferguson-Smith, M.A.5
  • 13
    • 0030924230 scopus 로고    scopus 로고
    • Defining the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis of aneuploidies
    • D'Alton ME, Malone FD, Chelmow D, Ward BE and Bianchi DW: Defining the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis of aneuploidies. Am J Obstet Gynecol 176: 769-774, 1997.
    • (1997) Am J Obstet Gynecol , vol.176 , pp. 769-774
    • D'Alton, M.E.1    Malone, F.D.2    Chelmow, D.3    Ward, B.E.4    Bianchi, D.W.5
  • 14
    • 0000787913 scopus 로고    scopus 로고
    • Die fluoreszenzin situ-Hybridisicrung (FISH) an unkultivierten Amnionzellen
    • Eiben B, Hammans W, Goebel R and Epplen JT: Die fluoreszenzin situ-Hybridisicrung (FISH) an unkultivierten Amnionzellen. Dt Ärztebl 95: A1304-A1306, 1998.
    • (1998) Dt Ärztebl , vol.95
    • Eiben, B.1    Hammans, W.2    Goebel, R.3    Epplen, J.T.4
  • 15
    • 0030942233 scopus 로고    scopus 로고
    • Prenatal diagnosis of ajialf cryptic translocation using chromosome microdissection
    • Senger G, Friedrich U, Claussen U, Tommerup N and Brondum-Nielsen K: Prenatal diagnosis of ajialf cryptic translocation using chromosome microdissection. Prenat Diagn 17: 369-374, 1997.
    • (1997) Prenat Diagn , vol.17 , pp. 369-374
    • Senger, G.1    Friedrich, U.2    Claussen, U.3    Tommerup, N.4    Brondum-Nielsen, K.5
  • 16
    • 0030893196 scopus 로고    scopus 로고
    • Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique
    • Verma RS, Batish SD, Gogineni SK, Kleyman SM and Stetka DG: Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique. Clin Genet 51: 91-93, 1997.
    • (1997) Clin Genet , vol.51 , pp. 91-93
    • Verma, R.S.1    Batish, S.D.2    Gogineni, S.K.3    Kleyman, S.M.4    Stetka, D.G.5
  • 17
    • 0031045298 scopus 로고    scopus 로고
    • Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR)
    • Lee HH, Chang JG, Lin SP, Chao HT, Yang ML and Ng HT: Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). Hum Genet 99: 364-367, 1997.
    • (1997) Hum Genet , vol.99 , pp. 364-367
    • Lee, H.H.1    Chang, J.G.2    Lin, S.P.3    Chao, H.T.4    Yang, M.L.5    Ng, H.T.6
  • 18
    • 0032016137 scopus 로고    scopus 로고
    • Centromeric alphoid DNA heteromorphisms of chromosome 22 revealed by FISH-techniquc
    • Liehr T, Pfeiffer RA, Trautmann U and Gebhart E: Centromeric alphoid DNA heteromorphisms of chromosome 22 revealed by FISH-techniquc. Clin Genet 53: 231-232, 1998.
    • (1998) Clin Genet , vol.53 , pp. 231-232
    • Liehr, T.1    Pfeiffer, R.A.2    Trautmann, U.3    Gebhart, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.