메뉴 건너뛰기




Volumn 137 A, Issue 2, 2005, Pages 208-212

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage

Author keywords

Mosaic trisomy 18q; Psendoisodicentric chromosome 18

Indexed keywords

ANAPHASE; ARTICLE; CASE REPORT; CHROMOSOME 18P; CHROMOSOME ARM; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DICENTRIC CHROMOSOME; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; HUMAN CELL; NEWBORN; PARTIAL TRISOMY; PARTIAL TRISOMY 18; PRIORITY JOURNAL; TELOMERE;

EID: 24344458432     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30845     Document Type: Article
Times cited : (8)

References (29)
  • 2
    • 0042232610 scopus 로고    scopus 로고
    • Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    • Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. 2003. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12:2153-2165.
    • (2003) Hum Mol Genet , vol.12 , pp. 2153-2165
    • Ballif, B.C.1    Yu, W.2    Shaw, C.A.3    Kashork, C.D.4    Shaffer, L.G.5
  • 3
    • 0142027581 scopus 로고    scopus 로고
    • Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/ Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
    • Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD. 2003. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/ Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 73:898-925.
    • (2003) Am J Hum Genet , vol.73 , pp. 898-925
    • Chai, J.H.1    Locke, D.P.2    Greally, J.M.3    Knoll, J.H.4    Ohta, T.5    Dunai, J.6    Yavor, A.7    Eichler, E.E.8    Nicholls, R.D.9
  • 4
    • 0024333605 scopus 로고
    • Visualization of centromere proteins CENP-B and CENP-C on a stable dicentric chromosome in cytological spreads
    • Earnshaw WC, Ratrie H 3rd, Stetten G. 1989. Visualization of centromere proteins CENP-B and CENP-C on a stable dicentric chromosome in cytological spreads. Chromosoma 98:1-12.
    • (1989) Chromosoma , vol.98 , pp. 1-12
    • Earnshaw, W.C.1    Ratrie III, H.2    Stetten, G.3
  • 5
    • 0028030935 scopus 로고
    • Role of nonhistone proteins in the chromosomal events of mitosis
    • Earnshaw WC, Mackay AM. 1994. Role of nonhistone proteins in the chromosomal events of mitosis. FASEB J 8:947-956.
    • (1994) FASEB J , vol.8 , pp. 947-956
    • Earnshaw, W.C.1    Mackay, A.M.2
  • 6
    • 0033358588 scopus 로고    scopus 로고
    • Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    • Edelmann L, Pandita RK, Morrow BE. 1999 Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64, 1076-1086.
    • (1999) Am J Hum Genet , vol.64 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 10
    • 0002232454 scopus 로고
    • Prenatal diagnosis of chromosomal abnormalities through amniocentesis
    • Milunsky A, editor. Baltimore: Johns Hopkins University Press
    • Hsu L. 1992. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Milunsky A, editor. Genetic disorders and the fetus, 3rd edition. Baltimore: Johns Hopkins University Press.
    • (1992) Genetic Disorders and the Fetus, 3rd Edition
    • Hsu, L.1
  • 11
    • 0027756756 scopus 로고
    • The organisation of repetitive sequences in the pericentromeric region of human chromosome 10
    • Jackson MS, Slijepcevic P, Ponder BA 1993. The organisation of repetitive sequences in the pericentromeric region of human chromosome 10. Nucleic Acids Res 21:5865-5874.
    • (1993) Nucleic Acids Res , vol.21 , pp. 5865-5874
    • Jackson, M.S.1    Slijepcevic, P.2    Ponder, B.A.3
  • 12
    • 0343362695 scopus 로고    scopus 로고
    • Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human
    • Ji Y, Rebert NA, Joslin JM, Higgins MJ, Schultz RA, Nicholls RD. 2000. Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Genome Res 10:319-329.
    • (2000) Genome Res , vol.10 , pp. 319-329
    • Ji, Y.1    Rebert, N.A.2    Joslin, J.M.3    Higgins, M.J.4    Schultz, R.A.5    Nicholls, R.D.6
  • 13
    • 0000075523 scopus 로고
    • The behavior in successive nuclear divisions of a chromosome broken at meiosis
    • McClintock B. 1939. The behavior in successive nuclear divisions of a chromosome broken at meiosis. Proc Natl Acad Sci USA 25:405-416.
    • (1939) Proc Natl Acad Sci USA , vol.25 , pp. 405-416
    • McClintock, B.1
  • 14
    • 0028986608 scopus 로고
    • Further evidence that CENP-C is a necessary component of active centromeres: Studies of a dic(X;15) with simultaneous immunofluorescence and FISH
    • Page SL, Earnshaw WC, Choo KHA, Shaeffer LG. 1995. Further evidence that CENP-C is a necessary component of active centromeres: Studies of a dic(X;15) with simultaneous immunofluorescence and FISH. Hum Molec Gen 4:289-294.
    • (1995) Hum Molec Gen , vol.4 , pp. 289-294
    • Page, S.L.1    Earnshaw, W.C.2    Choo, K.H.A.3    Shaeffer, L.G.4
  • 15
    • 0031888870 scopus 로고    scopus 로고
    • Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations
    • Page SL, Shaffer LG. 1998. Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations. Chrom Res 6:115-122.
    • (1998) Chrom Res , vol.6 , pp. 115-122
    • Page, S.L.1    Shaffer, L.G.2
  • 16
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
    • Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 17
    • 0037383509 scopus 로고    scopus 로고
    • Population-based analyses of mortality in trisomy 13 and trisomy 18
    • Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. 2003. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111:777-784.
    • (2003) Pediatrics , vol.111 , pp. 777-784
    • Rasmussen, S.A.1    Wong, L.Y.2    Yang, Q.3    May, K.M.4    Friedman, J.M.5
  • 18
    • 0028854976 scopus 로고
    • Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection
    • Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. 1995. Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 56:444-451.
    • (1995) Am J Hum Genet , vol.56 , pp. 444-451
    • Robinson, W.P.1    Binkert, F.2    Bernasconi, F.3    Lorda-Sanchez, I.4    Werder, E.A.5    Schinzel, A.A.6
  • 19
    • 0036362854 scopus 로고    scopus 로고
    • Molecular characterization of 18p deletions: Evidence for a breakpoint cluster
    • Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. 2002. Molecular characterization of 18p deletions: Evidence for a breakpoint cluster. Genet Med 4:15-19.
    • (2002) Genet Med , vol.4 , pp. 15-19
    • Schaub, R.L.1    Reveles, X.T.2    Baillargeon, J.3    Leach, R.J.4    Cody, J.D.5
  • 21
    • 0028789523 scopus 로고
    • Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres
    • Sullivan BA, Schwartz S. 1995. Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres. Hum Mol Genet 4:2189-2197.
    • (1995) Hum Mol Genet , vol.4 , pp. 2189-2197
    • Sullivan, B.A.1    Schwartz, S.2
  • 22
    • 0027379760 scopus 로고
    • Long-range analyses of the centromeric regions of human chromosomes 13,14 and 21: Identification of a narrow domain containing two key centromeric DNA elements
    • Trowell HE, Nagy A, Vissel B, Choo KH. 1993. Long-range analyses of the centromeric regions of human chromosomes 13,14 and 21: Identification of a narrow domain containing two key centromeric DNA elements. Hum Mol Genet 2:1639-1649.
    • (1993) Hum Mol Genet , vol.2 , pp. 1639-1649
    • Trowell, H.E.1    Nagy, A.2    Vissel, B.3    Choo, K.H.4
  • 23
    • 0023644911 scopus 로고
    • Structure of the major block of alphoid satellite DNA on the human Y chromosome
    • Tyler-Smith C, Brown WR. 1987. Structure of the major block of alphoid satellite DNA on the human Y chromosome. J Mol Biol 195:457-470.
    • (1987) J Mol Biol , vol.195 , pp. 457-470
    • Tyler-Smith, C.1    Brown, W.R.2
  • 25
    • 0019428930 scopus 로고
    • Homodicentric chromosomes: A distinctive type of dicentric chromosome
    • Ward BE, Bradley CM, Cooper JB, Robinson A. 1981. Homodicentric chromosomes: A distinctive type of dicentric chromosome. J Med Genet 18:54-58.
    • (1981) J Med Genet , vol.18 , pp. 54-58
    • Ward, B.E.1    Bradley, C.M.2    Cooper, J.B.3    Robinson, A.4
  • 26
    • 0013978242 scopus 로고
    • Congenital malformations in autosomal trisomy syndromes
    • Warkany J, Passarge E, Smith LB. 1966. Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112:502.
    • (1966) Am J Dis Child , vol.112 , pp. 502
    • Warkany, J.1    Passarge, E.2    Smith, L.B.3
  • 27
    • 0002509910 scopus 로고
    • Lymphocyte culture for chromosome analysis
    • Rooney DE, Czepulkowski BH, editors. Washington, DC: IRL Press
    • Watt JL, Steven GS. 1986. Lymphocyte culture for chromosome analysis. In: Rooney DE, Czepulkowski BH, editors. Human genetics: A practical approach. Washington, DC: IRL Press, pp 39-55.
    • (1986) Human Genetics: A Practical Approach , pp. 39-55
    • Watt, J.L.1    Steven, G.S.2
  • 28
    • 0025806731 scopus 로고
    • Physical map of the centromeric region of human chromosome 7: Relationship between two distinct alpha satellite arrays
    • Wevrick R, Willard HF. 1991. Physical map of the centromeric region of human chromosome 7: Relationship between two distinct alpha satellite arrays. Nucleic Acids Res 19:2295-2301.
    • (1991) Nucleic Acids Res , vol.19 , pp. 2295-2301
    • Wevrick, R.1    Willard, H.F.2
  • 29
    • 0017258328 scopus 로고
    • High resolution of human chromosomes
    • Yunis JJ. 1976. High resolution of human chromosomes. Science 191:1268-1270.
    • (1976) Science , vol.191 , pp. 1268-1270
    • Yunis, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.