ChromosOmics - Database

Icon by Leon Liehr                  

                                                     - REFERENCES for #2 -                                                              

      0. Liehr et al. unpublished data
  1. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T.
    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.
  2. Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Senger G, Nietzel A, Claussen U, Liehr T.
    Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes.
    J Med Genet. 2002 Jun;39(6):434-439.
  3. Liehr T, Nietzel A, Starke H, Heller A, Weise A, Mrasek K, Claussen U.
    Characterization of small human marker chromosomes by centromere-specific multicolor-FISH (cenM-FISH) and high resolution multicolor banding (MCB).
    ECA-newsletter 2002, 10: 3-8.
  4. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T.
    A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).
    Hum Genet. 2001 Mar;108(3):199-204.
  5. Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M.
    Identification of marker chromosomes in thirteen patients using FISH probing.
    Am J Med Genet. 1994 Oct 15;53(1):8-18.
  6. Ostroverkhova NV, Nazarenko SA, Rubtsov NB, Nazarenko LP, Bunina EN.
    Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting.
    Am J Med Genet. 1999 Nov 26;87(3):217-220.
  7. Villa N, Riva P, Colombo D, Sala E, Mariani S, Zorloni C, Crosti F, Dalpra L.
    Identification of a small supernumerary marker chromosome, r(2)(p10q11.2), and the problem of determining prognosis.
    Prenat Diagn. 2001 Oct;21(10):801-805.
  8. Plattner R, Heerema NA, Yurov YB, Palmer CG.
    Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.
    Hum Genet. 1993 Mar;91(2):131-140.
  9. Plattner R, Heerema NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG.
    Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization.
    Hum Genet. 1993 Jul;91(6):589-598.
  10. Giardino D, Finelli P, Russo S, Gottardi G, Rodeschini O, Atza MG, Natacci F, Larizza L.
    Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.
    Am J Med Genet. 2002 Aug 15;111(3):319-323.
  11. Lasan Trcic R, Hitrec V, Letica L, Cuk M, Begovic D.
    Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization.
    Croat Med J. 2003 Aug;44(4):477-479.
  12. Petit P, Fryns JP.
    Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome.
    Genet Couns. 1997;8(4):341-343.
  13. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  14. Fryns JP, De Waele P, Van Den Berghe H.
    Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.
    Hum Genet. 1979 Oct 1;51(2):123-125.
  15. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714
  16. Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Lagana C, Stuppia L, Sabatino G, Palka G.
    Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
    Am J Med Genet. 2004 Jun 1;127A(2):144-148.
  17. Lin CC, Li YC, Hsieh LJ, Chen CP, Ko TM, Tzeng CC, Yang ML, Fang JS, Li MS, Tzeng LS, Pan YJ, Lin SK, Tsai FJ.
    A Referral Center for Prenatal FISH Study in Taiwan-First Year Experience.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 194  (Abstractnumber 991).
  18. Mrasek K, Starke H, Liehr T.
    Another small supernumerary marker chromosome (sSMC) derived from chromosome 2 - towards a genotype/ phenotype correlation.
    J Histochem Cytochem, 2005, 53(3): 367-370.
  19. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  20. Jardim A, Pires LM, Mascarenhas A, Matoso E, Coelho F, Simoes L, Pinto M, Bento G, Sousa S, Ramos L, Marques Carreira I.
    Detection of two mosaic supernumerary  marker chromosome 2 in prenatal diagnosis.
    Chromosome Res 2005; 13 suppl. 1: 67-68 (Abstractnr. 1.123-P)
  21. Withers S, Hayward A
    Routine karyotyping for couples to an infertility clinic
    Abstract band of the 11th international congress of human genetics, 06-11.08.2006, Brisbane, Australia, p 175, Abstract 1157
  22. Brecevic L, Michel S, Starke H, Muller K, Kosyakova N, Mrasek K, Weise A, Liehr T.
    Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines.
    Cytogenet Genome Res. 2006;114(3-4):319-324.
  23. Douet-Guilbert N, Marical H, Pinson L, Herry A, Le Bris MJ, Morel F, De Braekeleer M.
    Characterisation of supernumerary chromosomal markers: a study of 13 cases.
    Cytogenet Genome Res. 2007;116(1-2):18-23.
  24. Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG.
    Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
    Genet Med. 2007 Mar;9(3):150-162.
  25. Jardim A, Melo JB, Matoso E, Pires LM, Ramos L,
    Two new cases of de novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis.
    Prenat Diagn. 2007 Apr;27(4):380-381.
  26. Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung S Wai, Cai W Wen, Eggeling F von, Mazurczak T, Bocian E, Liehr T.
    Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
    J Appl Genet. 2007;48(2):167-175.
  27. Tönnies H, Pietrzak J, Bocian E, Macdermont K, Kuechler A, Belitz B, Trautmann U, Schmidt A, Schulze B, Rodriguez L, Binkert F, Yardin C, Kosyakova N, Volleth M, Mkrtchyan H, Schreyer I, von Eggeling F, Weise A, Mrasek K, Liehr T.
    New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.
    J Histochem Cytochem. 2007 Jun;55(6):651-660.
  28. Nasiri F, Mahjoubi F, Soleimani S, Rahnama M, Mortezapour F, Manouchehri F, Razazian F, Zamanian M.
    Chromosomal findings in 8727 Iranian patients with mental retardation.
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p111 (Abstractnr. P0348)
  29. Giardino D, Valtorta E, De Canal G, Corti C, Valtorta C, Finelli P, Varde C, Iandolo M, Marchese C, Larizza L.
    Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases.
    Am J Med Genet A. 2007 Sep 15;143(18):2200-2203.
  30. Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D.
    Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.
    Cytogenet Genome Res. 2007;118(1):31-37.
  31. Li YF, Roeder E, Nowakowska B, Cooper ML, Patel A, Cai WW, Cheung SW.
    Partial trisomy 2q: report of a de novo inv dup(2)(q35-qter).
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p316 (Abstractno. 1593 - information directly from poster).
  32. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH.
    Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
    Am J Hum Genet. 2008 Feb;82(2):398-410.
  33. Marshall OJ, Chueh AC, Wong LH, Choo KH.
    Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.
    Am J Hum Genet. 2008 Feb;82(2):261-182.
  34. Mu Y, Van Dyke DL, Weiss L, Olgac S.
    De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11.2q14.2).
    J Med Genet. 1984 Feb;21(1):57-58.
  35. Romain DR, Mackenzie NG, Moss D, Columbano-Green LM, Smythe RH, Parfitt RG, Dixon JW.
    Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).
    J Med Genet. 1994 Aug;31(8):652-653.
  36. Riegel M, Schinzel A.
    Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?
    Am J Med Genet. 2002 Jul 22;111(1):76-80. Review. Erratum in: Am J Med Genet. 2002 Dec 1;113(3):313..
  37. Cooke LB, Richards H, Lunt PW, Burvill-Holmes L, Howell RT, McDermott A.
    Duplication 2 (q11.2-q21): a previously unreported abnormality.
    J Med Genet. 1995 Oct;32(10):825-826.
  38. Glass IA, Stormer P, Oei PT, Hacking E, Cotter PD.
    Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.
    J Med Genet. 1998 Apr;35(4):319-322.
  39. Rauch A, Pfeiffer RA, Trautmann U.
    Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.
    Clin Genet. 1996 Jun;49(6):279-285.
  40. Wang J, Reddy KS, Wang E, Halderman L, Morgan BL, Lachman RS, Lin HJ, Cornford ME.
    Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.
    Am J Med Genet. 1999 Feb 12;82(4):312-317.
  41. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazauric ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T.
    32 new cases with small supernumerary marker chromosomes (sSMC) detected in connection with fertility problems - detailed molecular cytogenetic characterization and review of the literature.
    Int J Mol Med 2008, 21(6):705-714.
  42. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA.
    Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
    Am J Med Genet A. 2006 Dec 15;140(24):2757-2767.
  43. Grevengood C, Dalton JD, Dugan JS, Park VM, Tharapel AT, Martens P, Ward JC, Shulman JP, Simpson JL, Elias S.
    Prenatal detection of de novo supernumerary marker chromosome as der(2)(p13q12) in a fetus with abnormal facies, single umbilical artery and diaphragamtic hernia.
    Am J Hum Genet 2003, 53 A 1796 (abstract).
  44. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 103.
  45. Gruchy N, Lebrun M, Herlicoviez M, Alliet J, Gourdier D, Kottler ML, Mittre H, Leporrier N.
    Supernumerary marker chromosomes management in prenatal diagnosis.
    Am J Med Genet A. 2008 Nov 1;146A(21):2770-2776.
  46. Tihy F, Oprea L, Lemyre E.
    Extra structurally abnormal chromosomes: experience of a prenatal diagnostic laboratory during 11 years.
    ASHG 2009; abstract only online, information from poster.
  47. Nieuwint A, Jansen S, van Hagen J, Wessel H, v.d. Mespel M, Weiss M.
    Triplication of 2q11.1-q12.3 in a patient with a mosaic supernumerary ring chromosome: identification and characterization by array-CGH and FISH
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S79 (Abstractnr. 1.P77)
  48. Anguiano A, Wang BT, Wang SR, Boyar FZ, Mahon LW, El Naggar MM, Kohn PH, Haddadin MH, Sulcova V, Sbeiti AH, Ayad MS, White BJ, Strom CM.
    Spectral karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.
    Mol Cytogenet. 2012; 5:3.
  49. Chen CP, Chen M, Chern SR, Wu PS, Chang SP, Lee DJ, Chen YT, Chen LF, Su JW, Hwa-Ruey Hsieh A, Hwa-Jiun Hsieh A, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2.
    Taiwan J Obstet Gynecol. 2012; 51:411-417.
  50. Guilherme RS, Klein E, Venner C, Hamid AB, Bhatt S, Melaragno MI, Volleth M, Polityko A, Kulpanovich A, Kosyakova N, Liehr T.
    Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?
    Chromosome Res. 2012; 20:825-835.
  51. Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet A, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier M, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca A, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.
    Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
    Clin Genet. 2014 Mar;85(3):233-244.
  52. Liehr T, Klein E, Mrasek K, Kosyakova N, Guilherme RS, Aust N, Venner C, Weise A, Hamid AB.
    Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.
    Cytogenet Genome Res. 2013; 139(1-2):158-163.
  53. Oliveira FP, Ribeiro J, Mota Freitas M, Teles NO, Bártolo A, da Luz Fonseca e Silva M.
    Characterizatıon of a mosaic de novo small supernumerary ring chromosome 2: Genotype-phenotype correlation
    Chromosome Res 2013, 21:S63 (Abstractnr. 1.P65)
  54. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  55. Ma R, Peng Y, Zhang Y, Xia Y, Tang G, Chang J, Guo R, Gui B, Huang Y, Chen C, Liang D, Wu L.
    Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.
    Mol Cytogenet
    . 2015 Feb 6;8:10.
  56. Jang W, Chae H, Kim J, Son JO, Kim SC, Koo BK, Kim M, Kim Y, Park IY, Sung IK.
    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.
    Mol Cytogenet. 2016 Aug 8;9:61.
  57. Wu Y, Wang Y, Tao J, Han X, Zhao X, Liu C, Gao L, Cheng W.
    The clinical use of chromosomal microarray analysis in detection of fetal chromosomal rearrangements: a study from China Mainland.
    Eur J Obstet Gynecol Reprod Biol. 2017 May;212:44-50. 
  58. Chen CP, Chen M, Chang SP, Hung FY, Lee MJ, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Town DD, Chen WL, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2.
    Taiwan J Obstet Gynecol
    . 2017 Apr;56(2):234-237.
  59. Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O.
    Small supernumerary marker chromosomes: A legacy of trisomy rescue?
    Hum Mutat
    . 2019 Feb;40(2):193-200.
  60. Kuuse K, Tammur P, Ilisson P, Jürgenson M, Muru K, Reinson K.
    Two cases of de novo small supernumerary marker chromosome (SSMC) detected postnatally by microarray. Clinical consequences.
    Abstracts of the 12th European Cytogenomics Conference 2019; 1.P14.
  61. Zhou L, Zheng Z, Wu L, Xu C, Wu H, Xu X, Tang S.
    Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.
    Mol Cytogenet 2020, 13 (1):19.
  62. Chen CP, Lin CJ, Chen SW, Wu FT, Chern SR, Wu PS, Chen YY, Chen WL, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia.
    Taiwan J Obstet Gynecol. 2020 Nov;59(6):941-944.
  63. Domaradzka J, Deperas M, Obersztyn E, Kucińska-Chahwan A, Brison N, Van Den Bogaert K, Roszkowski T, Kędzior M, Bartnik-Głaska M, Łuszczek A, Jakubów-Durska K, Vermeesch JR, Nowakowska BA.
    A placental trisomy 2 detected by NIPT evolved in a fetal small supernumerary marker chromosome (sSMC).
    Mol Cytogenet. 2021 Mar 15;14(1):18.