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Volumn 14, Issue 4, 2005, Pages 169-175

Three new cases with a supernumerary ring chromosome 1

Author keywords

Centromere near probes; FISH; Ring chromosome 1; Supernumerary chromosome

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 1; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CONTROLLED STUDY; CYTOGENETICS; ECHOCARDIOGRAPHY; EUCHROMATIN; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MALE; MOSAICISM; NEWBORN; PHYSICAL EXAMINATION; PREGNANCY COMPLICATION; PRENATAL SCREENING; PRIORITY JOURNAL; RING CHROMOSOME; SUPERNUMERARY CHROMOSOME;

EID: 25844451133     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200510000-00001     Document Type: Article
Times cited : (5)

References (36)
  • 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, Holmberg E, Ahsgren I, Mortier G, 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    Holmberg, E.4    Ahsgren, I.5    Mortier, G.6
  • 2
    • 12944284591 scopus 로고    scopus 로고
    • Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21. 1-q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotor developmental delay
    • Barbi G, Spaich Ch, Adolph S, Rossier E, Kehrer-Sawatzki H (2005). Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21. 1-q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotor developmental delay. Am J Med Genet 32A:419-424.
    • (2005) Am J Med Genet , vol.32 A , pp. 419-424
    • Barbi, G.1    Spaich, Ch.2    Adolph, S.3    Rossier, E.4    Kehrer-Sawatzki, H.5
  • 3
    • 0032780886 scopus 로고    scopus 로고
    • Conexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin
    • Berry V, Mackay D, Khaliq S, Francis PJ, Hameed A, Anwar K, et al. (1999). Conexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet 105:168-170.
    • (1999) Hum Genet , vol.105 , pp. 168-170
    • Berry, V.1    Mackay, D.2    Khaliq, S.3    Francis, P.J.4    Hameed, A.5    Anwar, K.6
  • 4
    • 0028027588 scopus 로고
    • Swedish survey on extra structurally abnormal chromosomes in 39105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization
    • Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, et al. (1994). Swedish survey on extra structurally abnormal chromosomes in 39105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14:1019-1028.
    • (1994) Prenat Diagn , vol.14 , pp. 1019-1028
    • Blennow, E.1    Bui, T.H.2    Kristoffersson, U.3    Vujic, M.4    Anneren, G.5    Holmberg, E.6
  • 5
    • 0021917574 scopus 로고
    • Forty four probands with an additional "marker" chromosome
    • Buckton KE, Spowart G, Newton MS, Evans HJ (1985). Forty four probands with an additional "marker" chromosome. Hum Genet 69:353-370.
    • (1985) Hum Genet , vol.69 , pp. 353-370
    • Buckton, K.E.1    Spowart, G.2    Newton, M.S.3    Evans, H.J.4
  • 6
    • 0032758343 scopus 로고    scopus 로고
    • Origins of accessory small ring marker chromosomes derived from chromosome 1
    • Callen DF, Eyre H, Fang YY, Guan XY, Veleba A, Martin NJ, et al. (1999). Origins of accessory small ring marker chromosomes derived from chromosome 1. J Med Genet 36:847-853.
    • (1999) J Med Genet , vol.36 , pp. 847-853
    • Callen, D.F.1    Eyre, H.2    Fang, Y.Y.3    Guan, X.Y.4    Veleba, A.5    Martin, N.J.6
  • 8
    • 0025237117 scopus 로고
    • Small marker chromosomes in man: Origin from pericentric heterochromatin of chromosomes 1,9, and 16
    • Callen DF, Ringenbergs ML, Fowler JCS, Freemantle CJ, Haan EA (1990). Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1,9, and 16. J Med Genet 27:155-159.
    • (1990) J Med Genet , vol.27 , pp. 155-159
    • Callen, D.F.1    Ringenbergs, M.L.2    Fowler, J.C.S.3    Freemantle, C.J.4    Haan, E.A.5
  • 9
    • 0028949722 scopus 로고
    • Identification of supernumerary ring chromosome 1 mosaicism using Fluorescence in situ hybridization
    • Chen H, Tuc-Muller CM, Batista DAS, Wertellecki W (1995). Identification of supernumerary ring chromosome 1 mosaicism using Fluorescence in situ hybridization. Am J Med Genet 56:219-223.
    • (1995) Am J Med Genet , vol.56 , pp. 219-223
    • Chen, H.1    Tuc-Muller, C.M.2    Batista, D.A.S.3    Wertellecki, W.4
  • 10
    • 0028897622 scopus 로고
    • The human lens intrinsic membrane protein MP70 (Cx50) gene: Clonal analysis and chromosome mapping
    • Church RL, Wang JH, Steele E (1995). The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. Curr Eye Res 14:215-221.
    • (1995) Curr Eye Res , vol.14 , pp. 215-221
    • Church, R.L.1    Wang, J.H.2    Steele, E.3
  • 11
    • 0032477780 scopus 로고    scopus 로고
    • FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I results of 26 new cases
    • Crolla JA, Long FL, Rivera H, Dennis NR (1998). FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I results of 26 new cases. Am J Med Genet 75:355-366.
    • (1998) Am J Med Genet , vol.75 , pp. 355-366
    • Crolla, J.A.1    Long, F.L.2    Rivera, H.3    Dennis, N.R.4
  • 13
    • 0027248861 scopus 로고
    • Uniparental disomy revisited: The first twelve years
    • Engel E (1993). Uniparental disomy revisited: the first twelve years. Am J Med Genet 46:670-674.
    • (1993) Am J Med Genet , vol.46 , pp. 670-674
    • Engel, E.1
  • 14
    • 0035935629 scopus 로고    scopus 로고
    • FISH characterization of a supernumerary r(1)(::cen→q22:: q22→sq21::) chromosome associated with multiple anomalies and bilateral cataracts
    • Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, et al. (2001). FISH characterization of a supernumerary r(1)(::cen→q22:: q22→sq21::) chromosome associated with multiple anomalies and bilateral cataracts. Am J Med Genet 104:157-164.
    • (2001) Am J Med Genet , vol.104 , pp. 157-164
    • Finelli, P.1    Cavalli, P.2    Giardino, D.3    Gottardi, G.4    Natacci, F.5    Savasta, S.6
  • 15
    • 0031576625 scopus 로고    scopus 로고
    • Regional mapping of the human MP70 (Cx50 Connexin 50) gene by fluorescence in situ hybridization to 1q21.1
    • Geyer DD, Church RL, Steele EC, Heinzmann C, Kojis TL, Klisak I, et al. (1997). Regional mapping of the human MP70 (Cx50 Connexin 50) gene by fluorescence in situ hybridization to 1q21.1. Molecular vision 3:13. Available from http://www.molvis.org/molvis/v3/a13/
    • (1997) Molecular Vision , vol.3 , pp. 13
    • Geyer, D.D.1    Church, R.L.2    Steele, E.C.3    Heinzmann, C.4    Kojis, T.L.5    Klisak, I.6
  • 16
    • 0033522780 scopus 로고    scopus 로고
    • FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes
    • Giardino D, Bettio D, Gottardi G, Rizzi N, Pierluigi M, Perfumo C, et al. (1999). FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes. Am J Med Genet 84:377-380.
    • (1999) Am J Med Genet , vol.84 , pp. 377-380
    • Giardino, D.1    Bettio, D.2    Gottardi, G.3    Rizzi, N.4    Pierluigi, M.5    Perfumo, C.6
  • 17
    • 0015240236 scopus 로고
    • Banding patterns of metaphase chromosomes in Down's syndrome
    • Hamerton (1971). Banding patterns of metaphase chromosomes in Down's syndrome. Lancet 2:709.
    • (1971) Lancet , vol.2 , pp. 709
    • Hamerton1
  • 18
    • 0025032986 scopus 로고
    • The role of chromosome abnormalities in reproductive failure
    • Jacobs PA (1990). The role of chromosome abnormalities in reproductive failure. Reprod Nutr Dev 1 (Suppl):63s-74s.
    • (1990) Reprod Nutr Dev , vol.1 , Issue.SUPPL.
    • Jacobs, P.A.1
  • 19
    • 0036796014 scopus 로고    scopus 로고
    • Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): Coincidence or consequence?
    • Kotzot D (2002). Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? J Med Genet 39:775-778.
    • (2002) J Med Genet , vol.39 , pp. 775-778
    • Kotzot, D.1
  • 20
    • 0029014073 scopus 로고
    • Supernumerary chromosome marker (1) in a developmentally delayed child
    • Lanphear N, Lamb A, Oppenheimer S, Soukup S (1995). Supernumerary chromosome marker (1) in a developmentally delayed child. Am J Med Genet 57:400-402.
    • (1995) Am J Med Genet , vol.57 , pp. 400-402
    • Lanphear, N.1    Lamb, A.2    Oppenheimer, S.3    Soukup, S.4
  • 22
    • 0027476508 scopus 로고
    • Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes
    • Michalski K, Rauer M, Williamson N, Perszyk A, Hoo J (1993). Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes. Am J Med Genet 46:88-94.
    • (1993) Am J Med Genet , vol.46 , pp. 88-94
    • Michalski, K.1    Rauer, M.2    Williamson, N.3    Perszyk, A.4    Hoo, J.5
  • 23
    • 17744374774 scopus 로고    scopus 로고
    • A new multicolor-FISH approach for the characterizations of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH)
    • Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, et al. (2001). A new multicolor-FISH approach for the characterizations 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    Heller, A.4    Fiedler, W.5    Wlodarska, I.6    Loncarevic, I.F.7    Beensen, V.8
  • 24
    • 0027184219 scopus 로고
    • Clinical findings in patients with marker chromosomes identified by Fluorescence in situ hybridization
    • Plattner R, Heerema NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG (1993). Clinical findings in patients with marker chromosomes identified by Fluorescence in situ hybridization. Hum Genet 91:589-598.
    • (1993) Hum Genet , vol.91 , pp. 589-598
    • Plattner, R.1    Heerema, N.A.2    Howard-Peebles, P.N.3    Miles, J.H.4    Soukup, S.5    Palmer, C.G.6
  • 26
    • 0035662753 scopus 로고    scopus 로고
    • Supernumerary marker chromosome (1) of parental origin and maternal uniparental disomy 1 in a developmentally delayed child
    • Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A (2001). Supernumerary marker chromosome (1) of parental origin and maternal uniparental disomy 1 in a developmentally delayed child. J Med Genet 38:885-888.
    • (2001) J Med Genet , vol.38 , pp. 885-888
    • Röthlisberger, B.1    Zerova, T.2    Kotzot, D.3    Buzhievskaya, T.I.4    Balmer, D.5    Schinzel, A.6
  • 27
    • 0032773588 scopus 로고    scopus 로고
    • Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins
    • Shanske AL, Dowling P, Schmidt R, White BJ, Russell B, Bogdanow A, et al. (1999). Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins. J Med Genet 36:625-628.
    • (1999) J Med Genet , vol.36 , pp. 625-628
    • Shanske, A.L.1    Dowling, P.2    Schmidt, R.3    White, B.J.4    Russell, B.5    Bogdanow, A.6
  • 28
    • 0031959735 scopus 로고    scopus 로고
    • A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract on chromosome 1q
    • Shields A, Mackay D, Ionides A, Berry A, Moore A, Baatacharya S (1998). A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract on chromosome 1q. Am J Med Genet 62:526-532.
    • (1998) Am J Med Genet , vol.62 , pp. 526-532
    • Shields, A.1    Mackay, D.2    Ionides, A.3    Berry, A.4    Moore, A.5    Baatacharya, S.6
  • 29
    • 0034011451 scopus 로고    scopus 로고
    • Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19 and 20 using FISH
    • Stankiewicz P, Bocian E, Jakubow-Durska K, Obersztyn E, Lato E, Starke H, et al. (2000). Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19 and 20 using FISH. J Med Genet 37:114-120.
    • (2000) J Med Genet , vol.37 , pp. 114-120
    • Stankiewicz, P.1    Bocian, E.2    Jakubow-Durska, K.3    Obersztyn, E.4    Lato, E.5    Starke, H.6
  • 30
    • 10744232485 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
    • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, et al. (2003). 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    Heller, A.4    Mrasek, K.5    Belitz, B.6
  • 31
    • 1542684713 scopus 로고    scopus 로고
    • Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques
    • Tönnies H, Hennies H-C, Spohr H-L, Neitzel H (2003b). Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques. Cytogenet Genome Res 103:28-33.
    • (2003) Cytogenet Genome Res , vol.103 , pp. 28-33
    • Tönnies, H.1    Hennies, H.-C.2    Spohr, H.-L.3    Neitzel, H.4
  • 32
    • 0042193659 scopus 로고    scopus 로고
    • Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature
    • Tönnies H, Neumann LM, Gruneberg B, Neitzel H (2003a). Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. Am J Med Genet 30:163-167.
    • (2003) Am J Med Genet , vol.30 , pp. 163-167
    • Tönnies, H.1    Neumann, L.M.2    Gruneberg, B.3    Neitzel, H.4
  • 34
    • 0027070644 scopus 로고
    • Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70
    • White TW, Bruzzone R, Goodenough DA, Paul DL (1992). Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell 3:711-720.
    • (1992) Mol Biol Cell , vol.3 , pp. 711-720
    • White, T.W.1    Bruzzone, R.2    Goodenough, D.A.3    Paul, D.L.4
  • 35
    • 0032520975 scopus 로고    scopus 로고
    • Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21
    • Willis TG, Zalcberg IR, Coignet LJA, Wlodarska M, Stul DM, Jadayel DM, et al. (1998). Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21. Blood 91:1873-1881.
    • (1998) Blood , vol.91 , pp. 1873-1881
    • Willis, T.G.1    Zalcberg, I.R.2    Coignet, L.J.A.3    Wlodarska, M.4    Stul, D.M.5    Jadayel, D.M.6
  • 36
    • 0031869734 scopus 로고    scopus 로고
    • Prenatal identification of de novo marker chromosomes using micro-FISH approach
    • Xu J, Fong CT, Cedrone E, Sullivan J, Wang N (1998). Prenatal identification of de novo marker chromosomes using micro-FISH approach. Clin Genet 53: 490-496.
    • (1998) Clin Genet , vol.53 , pp. 490-496
    • Xu, J.1    Fong, C.T.2    Cedrone, E.3    Sullivan, J.4    Wang, N.5


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