메뉴 건너뛰기




Volumn 121, Issue 3-4, 2008, Pages 293-297

First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

EID: 50849122046     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000138901     Document Type: Article
Times cited : (8)

References (20)
  • 1
    • 0142247466 scopus 로고    scopus 로고
    • Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres
    • Alonso A, Mahmood R, Li S, Cheung F, Yoda K, Warburton PE: Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres. Hum Mol Genet 12:2711-2721 (2003).
    • (2003) Hum Mol Genet , vol.12 , pp. 2711-2721
    • Alonso, A.1    Mahmood, R.2    Li, S.3    Cheung, F.4    Yoda, K.5    Warburton, P.E.6
  • 2
    • 0036783383 scopus 로고    scopus 로고
    • Neocentromeres: Role in human disease, evolution, and centromere study
    • Amor DJ, Choo K: Neocentromeres: Role in human disease, evolution, and centromere study. Am J Hum Genet 71:695-714 (2002).
    • (2002) Am J Hum Genet , vol.71 , pp. 695-714
    • Amor, D.J.1    Choo, K.2
  • 4
    • 0034011947 scopus 로고    scopus 로고
    • Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype
    • Barbi G, Kennerknecht I, Wohr G, Avramopoulos D, Karadima G, Petersen MB: Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype. Am J Med Genet 91:116-122 (2000).
    • (2000) Am J Med Genet , vol.91 , pp. 116-122
    • Barbi, G.1    Kennerknecht, I.2    Wohr, G.3    Avramopoulos, D.4    Karadima, G.5    Petersen, M.B.6
  • 5
    • 0031473740 scopus 로고    scopus 로고
    • Centromere DNA Dynamics: Latent centromeres and neocentromere formation
    • Choo KH: Centromere DNA Dynamics: Latent centromeres and neocentromere formation. Am J Med Hum Genet 61:1225-1233 (1997).
    • (1997) Am J Med Hum Genet , vol.61 , pp. 1225-1233
    • Choo, K.H.1
  • 6
    • 0001101346 scopus 로고
    • A recombinant X chromosome with atypical centromere observed in a child with Turner syndrome
    • Kaiser-Rogers KA, Davenport ML, Powell CM, Rao KW: A recombinant X chromosome with atypical centromere observed in a child with Turner syndrome. Am J Hum Genet 57(Suppl):A658 (1995).
    • (1995) Am J Hum Genet , vol.57 , Issue.SUPPL.
    • Kaiser-Rogers, K.A.1    Davenport, M.L.2    Powell, C.M.3    Rao, K.W.4
  • 7
    • 0031437950 scopus 로고    scopus 로고
    • The case for epigenetic effects on centromere identity and function
    • Karpen GH, Allshire RC: The case for epigenetic effects on centromere identity and function. Trends Genet 13:489-496 (1997).
    • (1997) Trends Genet , vol.13 , pp. 489-496
    • Karpen, G.H.1    Allshire, R.C.2
  • 8
    • 0037339958 scopus 로고    scopus 로고
    • Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 → 13q22 chromosome and balancing reciprocal deletion
    • Knegt AC, Li S, Engelen JJ, Bijlsma EK, Warburton PE: Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 → 13q22 chromosome and balancing reciprocal deletion. Prenat Diagn 23:215-220 (2003).
    • (2003) Prenat Diagn , vol.23 , pp. 215-220
    • Knegt, A.C.1    Li, S.2    Engelen, J.J.3    Bijlsma, E.K.4    Warburton, P.E.5
  • 9
    • 0034488623 scopus 로고    scopus 로고
    • Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome
    • Levy B, Papenhausen PR, Tepperberg JH, Dunn TM, Fallet S, et al: Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome. Cytogenet Cell Genet 91:165-170 (2000).
    • (2000) Cytogenet Cell Genet , vol.91 , pp. 165-170
    • Levy, B.1    Papenhausen, P.R.2    Tepperberg, J.H.3    Dunn, T.M.4    Fallet, S.5
  • 10
    • 18444415140 scopus 로고    scopus 로고
    • Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical spectrum
    • Li S, Malafiej P, Levy B, Mahmood R, Field M, et al: Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum. Am J Med Genet 110:258-267 (2002).
    • (2002) Am J Med Genet , vol.110 , pp. 258-267
    • Li, S.1    Malafiej, P.2    Levy, B.3    Mahmood, R.4    Field, M.5
  • 11
    • 4344625842 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (sSMC) in humans
    • Liehr T, Claussen U, Starke H: Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55-67 (2004).
    • (2004) Cytogenet Genome Res , vol.107 , pp. 55-67
    • Liehr, T.1    Claussen, U.2    Starke, H.3
  • 12
    • 34848909289 scopus 로고    scopus 로고
    • Neocentric small supernumerary marker chromosomes (sSMC) - three more cases and review of the literature
    • Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, et al: Neocentric small supernumerary marker chromosomes (sSMC) - three more cases and review of the literature. Cytogenet Genome Res 118:31-37 (2007).
    • (2007) Cytogenet Genome Res , vol.118 , pp. 31-37
    • Liehr, T.1    Utine, G.E.2    Trautmann, U.3    Rauch, A.4    Kuechler, A.5
  • 13
    • 0035077849 scopus 로고    scopus 로고
    • A novel chromatin immunoprecipitation and array (CIA) analysis identifies a 460-kb CENP-A-binding neocentromere DNA
    • Lo AW, Magliano DJ, Sibson MC, Kalitsis P, Craig JM, Choo KH: A novel chromatin immunoprecipitation and array (CIA) analysis identifies a 460-kb CENP-A-binding neocentromere DNA. Genome Res 11:448-457 (2001).
    • (2001) Genome Res , vol.11 , pp. 448-457
    • Lo, A.W.1    Magliano, D.J.2    Sibson, M.C.3    Kalitsis, P.4    Craig, J.M.5    Choo, K.H.6
  • 14
    • 0036591963 scopus 로고    scopus 로고
    • CENP-C binds the alpha-satellite DNA in vivo at specific centromere domains
    • Politi V, Perini G, Trazzi S, Pliss A, Raska I, et al: CENP-C binds the alpha-satellite DNA in vivo at specific centromere domains. J Cell Sci 15:2317-2327 (2002).
    • (2002) J Cell Sci , vol.15 , pp. 2317-2327
    • Politi, V.1    Perini, G.2    Trazzi, S.3    Pliss, A.4    Raska, I.5
  • 15
    • 0003429362 scopus 로고
    • Rooney DE, Czepulkowski BH (eds, 2nd ed Oxford University Press, New York
    • Rooney DE, Czepulkowski BH (eds): Human Cytogenetics: A Practical Approach, 2nd ed (Oxford University Press, New York 1992).
    • (1992) Human Cytogenetics: A Practical Approach
  • 16
    • 0034871864 scopus 로고    scopus 로고
    • Cytogenetic analysis and construction of a BAC contig across a common neocentromeric region from 9p
    • Satinover DL, Vance GH, VanDyke DL, Schwartz S: Cytogenetic analysis and construction of a BAC contig across a common neocentromeric region from 9p. Chromosoma 110:275-283 (2001).
    • (2001) Chromosoma , vol.110 , pp. 275-283
    • Satinover, D.L.1    Vance, G.H.2    VanDyke, D.L.3    Schwartz, S.4
  • 18
    • 0035988566 scopus 로고    scopus 로고
    • Modern molecular cytogenetic techniques in genetic diagnostics
    • Tönnies H: Modern molecular cytogenetic techniques in genetic diagnostics. Trends Mol Med 8:246-250 (2002).
    • (2002) Trends Mol Med , vol.8 , pp. 246-250
    • Tönnies, H.1
  • 19
    • 0033927331 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere
    • Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, et al: Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet 66:1794-1806 (2000).
    • (2000) Am J Hum Genet , vol.66 , pp. 1794-1806
    • Warburton, P.E.1    Dolled, M.2    Mahmood, R.3    Alonso, A.4    Li, S.5
  • 20
    • 14044257457 scopus 로고    scopus 로고
    • Chromosomal dynamics of human neocentromere formation
    • Warburton PE: Chromosomal dynamics of human neocentromere formation. Chromosome Res 12:617-626 (2004).
    • (2004) Chromosome Res , vol.12 , pp. 617-626
    • Warburton, P.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.