메뉴 건너뛰기




Volumn 25, Issue 12, 2005, Pages 1142-1149

Complex de novo cryptic subtelomeric rearrangements in a fetus with multiple ultrasonographic abnormalities and a normal karyotype at amniocentesis

Author keywords

Cryptic rearrangements; Fetal abnormalities; FISH; Prenatal diagnosis

Indexed keywords

AMNIOCENTESIS; AMNION FLUID ANALYSIS; AMNIOTIC FLUID CELL; ARTICLE; CELL CULTURE; CHROMOSOME 4P; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; CRYPTIC SUBTELOMERIC REARRANGEMENT; DEVICE; DIAGNOSTIC PROCEDURE; DNA PROBE; ECHOGRAPHY; FETUS; FETUS DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; HUMAN CELL; KARYOTYPE 46,XY; LYMPHOCYTE; PARENT; PRIORITY JOURNAL; TELOMERE;

EID: 29544438716     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1290     Document Type: Article
Times cited : (5)

References (24)
  • 1
    • 2542482661 scopus 로고    scopus 로고
    • Delineation of complex chromosomal rearrangements: Evidence for increased complexity
    • Astbury C, Christ LA, Aughton DJ. et al. 2004. Delineation of complex chromosomal rearrangements: evidence for increased complexity. Hum Genet 114: 448-457.
    • (2004) Hum Genet , vol.114 , pp. 448-457
    • Astbury, C.1    Christ, L.A.2    Aughton, D.J.3
  • 2
    • 0033776316 scopus 로고    scopus 로고
    • Fishing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes
    • Ballif BC, Kashorr CD, Shaffer LG. 2000. Fishing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Eur J Hum Genet 8: 764-770.
    • (2000) Eur J Hum Genet , vol.8 , pp. 764-770
    • Ballif, B.C.1    Kashorr, C.D.2    Shaffer, L.G.3
  • 3
    • 0035056746 scopus 로고    scopus 로고
    • Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier
    • Cotter PD, Musci TJ. 2001. Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier. Prenat Diagn 21: 171-175.
    • (2001) Prenat Diagn , vol.21 , pp. 171-175
    • Cotter, P.D.1    Musci, T.J.2
  • 4
    • 0042324205 scopus 로고    scopus 로고
    • Characterization of terminal chromosome anomalies using multisubtelomere FISH
    • Davies AF, Kirby TL, Docherty Z, Ogilvie CM. 2003. Characterization of terminal chromosome anomalies using multisubtelomere FISH. Am J Med Genet 120A: 483-489.
    • (2003) Am J Med Genet , vol.120 , pp. 483-489
    • Davies, A.F.1    Kirby, T.L.2    Docherty, Z.3    Ogilvie, C.M.4
  • 7
    • 1842683109 scopus 로고    scopus 로고
    • Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis
    • Goumy C, Bonnet-Dupeyron MN, Cherasse Y. et al. 2004. Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. Prenat Diagn 24: 249-256.
    • (2004) Prenat Diagn , vol.24 , pp. 249-256
    • Goumy, C.1    Bonnet-Dupeyron, M.N.2    Cherasse, Y.3
  • 8
    • 0001935617 scopus 로고
    • Prenatal diagnosis of chromosome analysis
    • Milunsky A (ed.). Plenum Press: New York
    • Hsu L. 1988. Prenatal diagnosis of chromosome analysis. In Genetic Disorders and the Fetus, 2nd edn, Milunsky A (ed.). Plenum Press: New York; 115-183.
    • (1988) Genetic Disorders and the Fetus, 2nd Edn. , pp. 115-183
    • Hsu, L.1
  • 10
    • 0023803572 scopus 로고
    • Complex chromosomal rearrangement in a woman with multiple miscarriages
    • Kausch K, Haaf T, Kohler J, Schmid M. 1988. Complex chromosomal rearrangement in a woman with multiple miscarriages. Am J Med Genet 31: 415-420.
    • (1988) Am J Med Genet , vol.31 , pp. 415-420
    • Kausch, K.1    Haaf, T.2    Kohler, J.3    Schmid, M.4
  • 12
    • 0020413177 scopus 로고
    • Complex chromosomal rearrangements and their genetic consequences
    • Kleczkowska A, Fryns JP, van den Berghe H. 1982. Complex chromosomal rearrangements and their genetic consequences. J Genet Hum 30: 199-214.
    • (1982) J Genet Hum , vol.30 , pp. 199-214
    • Kleczkowska, A.1    Fryns, J.P.2    Van Den Berghe, H.3
  • 13
    • 0033552424 scopus 로고    scopus 로고
    • Subtle chromosome rearrangements in children with unexplained mental retardation
    • Knight SJ, Regan R, Nilod A. et al. 1999. Subtle chromosome rearrangements in children with unexplained mental retardation. Lancet 354: 1676-1681.
    • (1999) Lancet , vol.354 , pp. 1676-1681
    • Knight, S.J.1    Regan, R.2    Nilod, A.3
  • 14
    • 0031714587 scopus 로고    scopus 로고
    • Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements
    • Kumar A, Becker LA, Depinet TW. et al. 1998. Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements. Hum Genet 103: 173-178.
    • (1998) Hum Genet , vol.103 , pp. 173-178
    • Kumar, A.1    Becker, L.A.2    Depinet, T.W.3
  • 15
    • 0025098124 scopus 로고
    • Cytogenetic results of chorionic villus sampling high success rate and diagnostic accuracy in the United States collaborative study
    • Ledbetter DH, Martin AO, Verlinsky Y. et al. 1990. Cytogenetic results of chorionic villus sampling high success rate and diagnostic accuracy in the United States collaborative study. Am J Obstet Gynecol 162: 495-501.
    • (1990) Am J Obstet Gynecol , vol.162 , pp. 495-501
    • Ledbetter, D.H.1    Martin, A.O.2    Verlinsky, Y.3
  • 16
    • 0030906960 scopus 로고    scopus 로고
    • Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations
    • Madan K, Nieuwint AW, Bever Y, van Bever Y. 1997. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet 99: 806-815.
    • (1997) Hum Genet , vol.99 , pp. 806-815
    • Madan, K.1    Nieuwint, A.W.2    Bever, Y.3    Van Bever, Y.4
  • 17
    • 0036244955 scopus 로고    scopus 로고
    • The complex structure and dynamic evolution of human subtelomeres
    • Mefford HC, Trask BJ. 2002. The complex structure and dynamic evolution of human subtelomeres. Nat Rev Genet 3: 91-102.
    • (2002) Nat Rev Genet , vol.3 , pp. 91-102
    • Mefford, H.C.1    Trask, B.J.2
  • 18
    • 0034973126 scopus 로고    scopus 로고
    • Obstetric ultrasonographic findings and fetal chromosomal abnormalities: Refining the association
    • Ott WJ, Taysi K. 2001. Obstetric ultrasonographic findings and fetal chromosomal abnormalities: refining the association. J Obstet Gynecol 184: 1414-1420.
    • (2001) J Obstet Gynecol , vol.184 , pp. 1414-1420
    • Ott, W.J.1    Taysi, K.2
  • 19
    • 0019121059 scopus 로고
    • Complex chromosome rearrangements: Report of a new case and literature review
    • Pai GS, Thomas GH, Mahoney W, Migeon BR. 1980. Complex chromosome rearrangements: report of a new case and literature review. Clin Genet 18: 436-444.
    • (1980) Clin Genet , vol.18 , pp. 436-444
    • Pai, G.S.1    Thomas, G.H.2    Mahoney, W.3    Migeon, B.R.4
  • 20
    • 0036128453 scopus 로고    scopus 로고
    • Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes
    • Pettenati MJ, Von Kap-Herr C, Jackle B. et al. 2002. Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes. Prenat Diagn 22: 193-197.
    • (2002) Prenat Diagn , vol.22 , pp. 193-197
    • Pettenati, M.J.1    Von Kap-Herr, C.2    Jackle, B.3
  • 21
    • 0024522992 scopus 로고
    • The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities
    • Rhoads GG, Jackson LG, Schlesselman SE. et al. 1989. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 320: 609-617.
    • (1989) N Engl J Med , vol.320 , pp. 609-617
    • Rhoads, G.G.1    Jackson, L.G.2    Schlesselman, S.E.3
  • 22
    • 1642514697 scopus 로고    scopus 로고
    • Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features
    • Rodriguez-Revenga L, Badenas C, Sanchez A. et al. 2004. Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features. Clin Genet 65: 17-23.
    • (2004) Clin Genet , vol.65 , pp. 17-23
    • Rodriguez-Revenga, L.1    Badenas, C.2    Sanchez, A.3
  • 23
    • 0035016839 scopus 로고    scopus 로고
    • Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-Year multi-center retrospective study and review of the literature
    • Tepperberg J, Pettenati MJ, Rao PN. et al. 2001. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 21: 293-301.
    • (2001) Prenat Diagn , vol.21 , pp. 293-301
    • Tepperberg, J.1    Pettenati, M.J.2    Rao, P.N.3
  • 24
    • 0036173354 scopus 로고    scopus 로고
    • Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)
    • Witters I, Devriendt K, Legius E. et al. 2002. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn 22: 29-33.
    • (2002) Prenat Diagn , vol.22 , pp. 29-33
    • Witters, I.1    Devriendt, K.2    Legius, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.