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Volumn 12, Issue 3, 2004, Pages 239-244

Molecular-cytogenetic characterization of the origin and the presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs)

Author keywords

Centromere; Chromosome 3; Fluorescence in situ hybridization; Human cytogenetics; SMCS; Supernumerary chromosomes

Indexed keywords

SATELLITE DNA;

EID: 1942441728     PISSN: 09673849     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:CHRO.0000021916.18019.1c     Document Type: Article
Times cited : (9)

References (28)
  • 1
    • 0035869201 scopus 로고    scopus 로고
    • Detailed characterization of 12 supernumerary ring chromosomes using micro- FISH and search for uniparental disomy
    • Anderlid BM, Sahlen S, Schoumans J et al. (2001) Detailed characterization of 12 supernumerary ring chromosomes using micro- FISH and search for uniparental disomy. Am J Med Genet 99: 223-233.
    • (2001) Am J Med Genet , vol.99 , pp. 223-233
    • Anderlid, B.M.1    Sahlen, S.2    Schoumans, J.3
  • 2
    • 0037366021 scopus 로고    scopus 로고
    • Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl
    • Barbi G, Spaich C, Adolph S, Kehrer-Sawatzki H (2003) Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl. J Med Genet 40: e27.
    • (2003) J Med Genet , vol.40
    • Barbi, G.1    Spaich, C.2    Adolph, S.3    Kehrer-Sawatzki, H.4
  • 3
    • 0016153298 scopus 로고
    • Heterozygosity and homozygosity for a pericentric inversion of human chromosome 3
    • Betz A, Turleau C, de Grouchy J (1974) [Heterozygosity and homozygosity for a pericentric inversion of human chromosome 3]. Ann Genet 17: 79-80.
    • (1974) Ann Genet , vol.17 , pp. 79-80
    • Betz, A.1    Turleau, C.2    De Grouchy, J.3
  • 5
    • 0033790202 scopus 로고    scopus 로고
    • An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations
    • Cockwell AE, Gibbons B, Moore IE, Crolla JA (2000) An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations. J Med Genet 37: 807-810.
    • (2000) J Med Genet , vol.37 , pp. 807-810
    • Cockwell, A.E.1    Gibbons, B.2    Moore, I.E.3    Crolla, J.A.4
  • 6
    • 0030784523 scopus 로고    scopus 로고
    • A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes
    • Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR (1997) A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. Am J Med Genet 72: 440-447.
    • (1997) Am J Med Genet , vol.72 , pp. 440-447
    • Crolla, J.A.1    Howard, P.2    Mitchell, C.3    Long, F.L.4    Dennis, N.R.5
  • 7
    • 0037765385 scopus 로고    scopus 로고
    • Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes: A study using cross-species colour segmenting (RxFISH)
    • Hills LV, Nouri S, Slater HR (2003) Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes: a study using cross-species colour segmenting (RxFISH). Chromosome Res II: 359-363.
    • (2003) Chromosome Res , vol.2 , pp. 359-363
    • Hills, L.V.1    Nouri, S.2    Slater, H.R.3
  • 8
    • 1942426954 scopus 로고
    • Incomplete trisomy in a mongoloid child exhibiting minimal stigmata
    • Ilberry PLT, Lee CWG, Winn SM (1961) Incomplete trisomy in a mongoloid child exhibiting minimal stigmata. Med J Austr 48: 182-184.
    • (1961) Med J Austr , vol.48 , pp. 182-184
    • Ilberry, P.L.T.1    Lee, C.W.G.2    Winn, S.M.3
  • 9
    • 0028968840 scopus 로고
    • A search for uniparental disomy in carriers of supernumerary marker chromosomes
    • James RS, Temple IK, Dennis NR, Crolla JA (1995) A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 3: 21-26.
    • (1995) Eur J Hum Genet , vol.3 , pp. 21-26
    • James, R.S.1    Temple, I.K.2    Dennis, N.R.3    Crolla, J.A.4
  • 10
    • 0033613977 scopus 로고    scopus 로고
    • Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
    • Kotzot D (1999) Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82: 265-274.
    • (1999) Am J Med Genet , vol.82 , pp. 265-274
    • Kotzot, D.1
  • 11
    • 0037087369 scopus 로고    scopus 로고
    • Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay
    • Levy B, Jalal SM, Dunn TM et al. (2002) Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay. Am J Med Genet 108: 198-204.
    • (2002) Am J Med Genet , vol.108 , pp. 198-204
    • Levy, B.1    Jalal, S.M.2    Dunn, T.M.3
  • 12
    • 0036551276 scopus 로고    scopus 로고
    • Microdissection based high resolution multicolor banding for all 24 human chromosomes
    • Liehr T, Heller A, Starke H et al. (2002) Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335-9.
    • (2002) Int J Mol Med , vol.9 , pp. 335-339
    • Liehr, T.1    Heller, A.2    Starke, H.3
  • 13
    • 1942491171 scopus 로고    scopus 로고
    • Characterization of small marker chromosomes (SMC) by recently developed molecular cytogenetic approaches
    • Liehr T, Nietzel A, Starke H et al. (2003) Characterization of small marker chromosomes (SMC) by recently developed molecular cytogenetic approaches. J Ass Genet Techn 29: 5-10.
    • (2003) J Ass Genet Techn , vol.29 , pp. 5-10
    • Liehr, T.1    Nietzel, A.2    Starke, H.3
  • 14
    • 0028843747 scopus 로고
    • Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis
    • Müller-Navia J, Nebel A, Schleiermacher E (1995) Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. Hum Genet 96: 661-667.
    • (1995) Hum Genet , vol.96 , pp. 661-667
    • Müller-Navia, J.1    Nebel, A.2    Schleiermacher, E.3
  • 15
    • 0029798465 scopus 로고    scopus 로고
    • Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities
    • Müller-Navia J, Nebel A, Oehler D, Theile U, Zabel B, Schleiermacher E (1996) Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities. Prenat Diagn 16: 915-922.
    • (1996) Prenat Diagn , vol.16 , pp. 915-922
    • Müller-Navia, J.1    Nebel, A.2    Oehler, D.3    Theile, U.4    Zabel, B.5    Schleiermacher, E.6
  • 16
    • 17744374774 scopus 로고    scopus 로고
    • A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH)
    • Nietzel A, Rocchi M, Starke H, et al. (2001) A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108: 199-204.
    • (2001) Hum Genet , vol.108 , pp. 199-204
    • Nietzel, A.1    Rocchi, M.2    Starke, H.3
  • 17
    • 10744228990 scopus 로고    scopus 로고
    • Karyotyping of human synaptonemal complexes by cenM-FISH
    • Oliver-Bonet M, Liehr T, Nietzel A et al. (2003) Karyotyping of human synaptonemal complexes by cenM-FISH. Eur J Hum Genet 11: 879-883.
    • (2003) Eur J Hum Genet , vol.11 , pp. 879-883
    • Oliver-Bonet, M.1    Liehr, T.2    Nietzel, A.3
  • 18
    • 0031857633 scopus 로고    scopus 로고
    • Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome
    • Paoloni-Giacobino A, Morris MA, Dahoun SP (1998) Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome. Prenat Diagn 18: 751-752.
    • (1998) Prenat Diagn , vol.18 , pp. 751-752
    • Paoloni-Giacobino, A.1    Morris, M.A.2    Dahoun, S.P.3
  • 19
    • 0033025736 scopus 로고    scopus 로고
    • Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q
    • Portnoi MF, Boutchnei S, Bouscarat F et al. (1999) Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. J Med Genet 36: 246-250.
    • (1999) J Med Genet , vol.36 , pp. 246-250
    • Portnoi, M.F.1    Boutchnei, S.2    Bouscarat, F.3
  • 20
    • 0026709047 scopus 로고
    • Study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)
    • Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R (1992) Study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet 42: 84-90.
    • (1992) Clin Genet , vol.42 , pp. 84-90
    • Rauch, A.1    Pfeiffer, R.A.2    Trautmann, U.3    Liehr, T.4    Rott, H.D.5    Ulmer, R.6
  • 21
    • 0032427883 scopus 로고    scopus 로고
    • Mosaic supernumerary marker chromosome identified as a der(3) by FISH
    • Rothemund H, Greenberg CR, Dawson AJ (1998) Mosaic supernumerary marker chromosome identified as a der(3) by FISH. Clin Genet 54: 526-527.
    • (1998) Clin Genet , vol.54 , pp. 526-527
    • Rothemund, H.1    Greenberg, C.R.2    Dawson, A.J.3
  • 22
    • 10744232485 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
    • Starke H, Nietzel A, Weise A et al. (2003a) Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114: 51-67.
    • (2003) Hum Genet , vol.114 , pp. 51-67
    • Starke, H.1    Nietzel, A.2    Weise, A.3
  • 23
    • 12244283127 scopus 로고    scopus 로고
    • First case of trisomy 21 accompanied by an additional der(4)(:p11?q11:) plus partial uniparental disomy 4p15-16
    • Starke H, Mitulla B, Nietzel A et al. (2003b) First case of trisomy 21 accompanied by an additional der(4)(:p11?q11:) plus partial uniparental disomy 4p15-16. Am J Med Genet 116A: 26-30.
    • (2003) Am J Med Genet , vol.116 A , pp. 26-30
    • Starke, H.1    Mitulla, B.2    Nietzel, A.3
  • 25
  • 26
    • 0036071365 scopus 로고    scopus 로고
    • Maternal uniparental disomy 12 in a healthy girl with a 47,XX, + der(12)(:p11?q11:)/46,XX karyotype
    • von Eggeling F, Hoppe C, Bartz U et al. (2002) Maternal uniparental disomy 12 in a healthy girl with a 47,XX, + der(12)(:p11?q11:)/46,XX karyotype. J Med Gen 39: 519-521.
    • (2002) J Med Gen , vol.39 , pp. 519-521
    • Von Eggeling, F.1    Hoppe, C.2    Bartz, U.3
  • 27
    • 0032429527 scopus 로고    scopus 로고
    • A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores
    • Wandall A, Tranebjaerg L, Tommerup N (1998) A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores. Chromosoma 107: 359-65.
    • (1998) Chromosoma , vol.107 , pp. 359-365
    • Wandall, A.1    Tranebjaerg, L.2    Tommerup, N.3
  • 28
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49: 995-1013.
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1


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