ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #8 -                                                              

      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 unpublished data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. 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.
  3. Starke H, Schreyer I, Kähler C, Fiedler W, Beensen V, Heller A, Nietzel A, Claussen U, Liehr T.
    Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8.
    Prenat Diagn. 1999 Dec;19(12):1169-1174.
  4. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
    In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  5. James RS, Temple IK, Dennis NR, Crolla JA.
    A search for uniparental disomy in carriers of supernumerary marker chromosomes.
    Eur J Hum Genet. 1995;3(1):21-26.
  6. Fisher AM, Barber JC, Crolla JA, James RS, Lestas AN, Jennings I, Dennis NR.
    Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.
    Am J Med Genet. 1993 Aug 1;47(1):100-105.
  7. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.
    Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
    Am J Med Genet. 2001 Mar 15;99(3):223-233.
  8. Blennow E, Anneren G, Bui TH, Berggren E, Asadi E, Nordenskjold M.
    Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).
    Am J Hum Genet. 1993 Aug;53(2):433-442.
  9. Daniel A, Malafiej P.
    A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15.
    Am J Med Genet. 2003 Mar 15;117A(3):212-222.
  10. 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.
  11. Heng HH, Ye CJ, Yang F, Ebrahim S, Liu G, Bremer SW, Thomas CM, Ye J, Chen TJ, Tuck-Muller C, Yu JW, Krawetz SA, Johnson A.
    Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization.
    Clin Genet. 2003 May;63(5):358-367.
  12. Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T.
    Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.
    Hum Genet. 1997 Dec;101(3):255-262.
  13. Tonk VS, Kukolich MK, Morgan D, Khan A, Jalal SM.
    Ring chromosome 8 syndrome: further characterization.
    Am J Med Genet. 2000 Jan 17;90(2):162-164.
  14. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR.
    AcroM fluorescent in situ hybridization analyses of marker chromosomes.
    Hum Genet. 2001 Aug;109(2):152-158.
  15. Gravholt CH, Friedrich U.
    Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children.
    Am J Med Genet. 1995 Mar 13;56(1):106-111.
  16. Melnyk AR, Dewald G.
    Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies.
    Am J Med Genet. 1994 Mar 1;50(1):12-14.
  17. Butler MG, Roback EW, Allen GA, Dev VG.
    Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies.
    Am J Med Genet. 1995 Jul 3;57(3):494-495.
  18. Rothenmund H, Chudley AE, Dawson AJ.
    Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update.
    Am J Med Genet. 1997 Oct 31;72(3):339-342.
  19. Chudley AE, Zheng HZ, Pabello PD, Shia G, Wang HC.
    Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterization.
    Am J Med Genet. 1983 Sep;16(1):89-97.
  20. Jalal SM, Law ME, Lindor NM, Thompson KJ, Sekhon GS.
    Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders.
    Mayo Clin Proc. 2001 Jan;76(1):16-21.
  21. Spinner NB, Grace KR, Owens NL, Sovinsky L, Pellegrino JE, McDonald-McGinn D, Zackai E.
    Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.
    Am J Med Genet. 1995 Mar 13;56(1):22-24.
  22. 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.
  23. 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.
  24. Hastings RJ, Nisbet DL, Waters K, Spencer T, Chitty LS.
    Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.
    Prenat Diagn. 1999 May;19(5):436-445.
  25. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.
    Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
    Am J Med Genet. 1995 Jan 2;55(1):85-94.
  26. Li  S, Malafiej P, Levy B, Mahmood R, Field M, Hughes T, Lockhart LH, Wu Z, Huang M, Hirschhorn K, Velagaleti GV, Daniel A, Warburton PE.
    Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.
    Am J Med Genet. 2002 Jul 1;110(3):258-267.
  27. Ohashi H, Wakui K, Ogawa K, Okano T, Niikawa N, Fukushima Y.
    A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p.
    Am J Hum Genet. 1994 Dec;55(6):1202-1208.
  28. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  29. Batanian JR, Huang Y, Gottesman GS, Grange DK, Blasingame AV.
    Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting.
    Am J Med Genet. 2000 Feb 14;90(4):276-282.
  30. Voullaire L, Saffery R, Earle E, Irvine DV, Slater H, Dale S, du Sart D, Fleming T, Choo KH.
    Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event.
    Am J Med Genet. 2001 Jul 22;102(1):86-94.
  31. Reddy KS, Sulcova V, Schwartz S, Noble JE, Phillips J, Brasel JA, Huff K, Lin HJ.
    Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker.
    Am J Med Genet. 2000 May 1;92(1):69-76.
  32. Loeffler J, Soelder E, Erdel M, Utermann B, Janecke A, Duba HC, Utermann G.
    Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.
    Am J Med Genet. 2003 Jan 30;116A(3):290-294.
  33. Engelen JJ, Schrander-Stumpel CT, Theunissen PM, Vaes-Peeters G, Albrechts JC, Hamers AJ.
    Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.
    Am J Med Genet. 2003 Apr 30;118A(3):274-278.
  34. Sasagawa I, Nakada T, Ishigooka M, Tomaru M, Sawamura T, Tateno T.
    Cryptorchidism and marker chromosomes: identification of marker chromosomes by fluorescence in situ hybridization.
    Urol Int. 1995;55(1):25-28.
  35. Sasagawa I, Nakada T, Ishigooka M, Sawamura T, Adachi Y, Hashimoto T.
    Chromosomal anomalies in cryptorchidism.
    Int Urol Nephrol. 1996;28(1):99-102.
  36. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  37. Sulcova V, Reddy KS, Schwartz S, Noble J, Lin H
    An analphoid marker chromosome shown to be an inverted duplication 8q23qter with a neocentromere.
    Am J Hum Genet Suppl 1999; 65:A2026.
  38. Velinov M, Gu H, Genovese M, Duncan C, Warburton P, Brooks SS, Jenkins EC.
    Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses.
    Ann Genet. 2004 Apr-Jun;47(2):199-205.
  39. Herry A, Morel F, Le Bris MJ, Bellec V, Lallaoui H, Parent P, De Braekeleer M.
    Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers.
    Am J Med Genet. 2004 Jul 1;128A(1):33-38.
  40. Bibas Bonet H, Fontenla M, Fauze R, G De Pinat I.
    [Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype]
    Rev Neurol. 2001 May 1;32(8):746-750.
  41. Leung WC, Waters JJ, Chitty L.
    Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses.
    Prenat Diagn. 2004 Oct;24(10):790-795.
  42. Demori E, Devescovi R, Benussi DG, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V.
    Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.
    Am J Med Genet. 2004;130A(3):288-294.
  43. Gole LA, Biswas A.
    Characterization of a small supernumerary marker chromosome as r(8) at prenatal diagnosis by MFISH.
    Prenat Diagn. 2005;25(1):73-78.
  44. Demori E, Devescovi R, Benussi DG, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V.
    Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.
    Am J Med Genet A. 2004 Oct 15;130(3):288-294.
  45. de Pater JM, Kroes HY, Verschuren M, van Oppen AC, Albrechts JC, Engelen JJ.
    Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences.
    Prenat Diagn. 2005;25(2):151-155.
  46. Neumann T, Exeler R, Wittwer B, Müller-Navia J, Schrörs E, Kennerknecht I, Horst J
    A small supernumerary acentric marker chromosome 8 in a 23 year old slightly dysmorphic patient without mental retardation.
    Cytogenet Cell Genet 1999; 85:158 (Abstractnr. P665)
  47. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  48. Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G.
    Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.
    Eur J Hum Genet. 2005; 13(11):1192-204.
  49. Shah HO, Iglesias A, Miller B, Lin JH, Karnik A, Sherman J, Macera MJ.
    Molecular characterization and identification of a de novo marker chromosome in a child with mild developmental delay..
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p136 (Abstractno. 648)
  50. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F, Starke H.
    Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.
    Cytogenet Genome Res. 2006;112(1-2):23-34.
  51. Belloso JM, Caballin MR, Gabau E, Baena N, Vidal R, Villatoro S, Guitart M.
    Characterization of six marker chromosomes by comparative genomic hybridization.
    Am J Med Genet A. 2005;136:169-174.
  52. Weimer J, Metzke-Heidemann S, Plendl H, Caliebe A, Grunewald R, Ounap K, Tammur P, Jonat W, Bartsch O, Siebert R, Arnold N.
    Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
    Am J Med Genet A. 2006 Mar 1;140(5):488-495.
  53. Yilmaz S, Tarkan-Argüden Y, Kuru D, Deviren A, Karaman B, Yüksel A, Hacihanefioglu S.
    Mosaic supernumerary r(8) syndrome.
    Genet Couns. 2005;16(2):187-190.
  54. Nucaro AL, Rossino R, Pruna D, Rassu S, Cianchetti C, Cao A, Moi P.
    Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.
    Prenat Diagn. 2006;26(5):418-419.
  55. Napoleone RM, Varela M, Andersson HC.
    Complex congenital heart malformations in mosaic tetrasomy 8p: case report and review of the literature.
    Am J Med Genet. 1997 Dec 19;73(3):330-333.
  56. LeBris MJ, Marcorelles P, Audrezet MP, Parent P, Heren P, Le Guern H, Herry A, Morel F, Collet M, Ferec C, De Braekeleer M.
    Prenatal diagnosis of mosaic tetrasomy 8p.
    Am J Med Genet A. 2003 Jul 1;120(1):44-48.
  57. Lopez-Pajares I, Delicado A, Lapunzina P, Mori MA, De Torres ML, Aso S, Garcia Sanchez P.
    Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.
    Am J Med Genet A. 2003 May 1;118(4):353-357.
  58. Robinow M, Haney N, Chen H, Sorauf T, Van Dyke DL, Babu VR, Powell S, Maliszewski W, Guerin S, Landers JW.
    Secondary trisomy or mosaic "tetrasomy" 8p.
    Am J Med Genet. 1989 Mar;32(3):320-324.
  59. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S.
    The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.
    Eur J Med Genet. 2006 May-Jun;49(3):207-314.
  60. Brecevic L, Michel S, Starke H, Müller 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.
  61. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S.
    Supernumerary marker chromosomes detected in 100 000 prenatal diagnoses: molecular cytogenetic studies and clinical significance.
    Prenat Diagn. 2006 Dec;26(12):1142-1150.
  62. Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, Liehr T, Vermeesch JR.
    Array painting using microdissected chromosomes to map chromosomal breakpoints.
    Cytogenet Genome Res. 2007;116(3):158-166.
  63. 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.
  64. 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.
  65. 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.
  66. 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.
  67. Schell-Apacik C, Wettwer M, Jakobeit M, Ertl-Wagner B, Heinrich U, Müller-Navia J, von Voss H.
    Case report: patient with psychomotoric delay, dysmorphic features and hearing impairment due to a de novo translocation 8p;12p resulting in the karyotype 47,XY,+dic(8;12)(8pter->q11.1::12q11.1->12pter).
    Chr Res 2007, Vol 15 Suppl. 1, p 34 (Abstractnr. 1.26-P)
  68. Engelen JJ, de Die-Smulders CE, Sijstermans JM, Meers LE, Albrechts JC, Hamers AJ.
    Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.
    J Med Genet. 1995 Oct;32(10):792-795.
  69. Bettio D, Baldwin EL, Carrozzo R, Vignoli A, May L, Venci A, Ledbetter DH.
    Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism.
    Am J Med Genet A. 2008 Jan 15;146(2):247-250.
  70. 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.
  71. 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.
  72. Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T.
    Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
    Eur J Hum Genet. 2005 Oct;13(10):1131-1136.
  73. Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.
    8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
    Eur J Hum Genet. 2008 Jan;16(1):18-27.
  74. 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.
  75. Dalpra L, Giardino D, Guerneri S, Nocera G, Amico FP, Briscioli V, Finelli P, Martinoli E, Sala E, Villa N, Crosti F, Chiodo F, Operti M, di Cantogno LV, Savin E, Croci G, Franchi F, Venti G, Donti E, Migliori V, Pettinari A, Bonifacio S, Centrone C, Torricelli F, Rossi S, Simi P, Granata P, Casalone R, Lenzini E, Artifoni L, Pecile V, Bellotti D, Cauffin D, Cavani S, Pierluigi M, Larizza L.
    Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.
    Annales de Genetique 2003, 46(2-3): 233 (abstract no 7.24)
  76. Freitas MM, Candeias C, Teles NO, e Silva MLF, Alegria A, Martins M, Pinto M.
    "Pure" partial 8q duplication: a "de novo" unbalanced rearrangement identified by FISH.
    Annales de Genetique 2003, 46(2-3): 250 (abstract no 7.63)
  77. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 359 ff
  78. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 364-365.
  79. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 372.
  80. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 379 ff.
  81. JCK Barber, S Huang, S Beal, D Bunyan, VK Maloney, M Collinson, JA Crolla.
    sSMC characterization by array-CGH.
    ECA-Newsletter 2009:24, p12
  82. Burnside RD, Ibrahim J, Flora C, Schwartz S, Tepperberg JH, Papenhausen PR
    Interstitial Deletion of 8q in a girl from Unbalanced Segregation of a Paternal Deletion/ring Karyotype.
    ASHG 2009; abstract only online, information from poster.
  83. Risheg H, Chung W, Gadi I, Pasion R, Schwartz S, Tepperberg J, Papenhausen P.
    Two Mosaic Ring Cases with Evidence of Structural Evolution Determined by SNP Microarray.
    ASHG 2009; abstract only online, information from poster.
  84. Qin N, Schultz R, Freeman T, Johnston T, Huang B.
    Prenatal detection of a marker chromosome derived from chromosome 8 by array- CGH
    ASHG 2009; abstract only online, information from poster.
  85. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC.
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
    Mol Cytogenet. 2010 Jun 29;3:11.
  86. Wilson B, Harikumar C, Fisher RB.
    Agenesis of the corpus callosum in mosaic tetrasomy 8p.
    J Med Genet 2010; 47: Suppl. 1: S54 (Abstract No. 1.34).
  87. Maya I, Davidov B, Gershovitz L, Zalzstein Y, Taub E, Coppinger J, Shaffer LG, Shohat M.
    Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.
    Prenat Diagn. 2010 Dec;30(12-13):1131-1137.
  88. Valduga M, Philippe C, Bach Segura P, Thiebaugeorges O, Miton A, Beri M, Bonnet C, Nemos C, Foliguet B, Jonveaux P.
    A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.
    Prenat Diagn. 2010 Apr;30(4):333-341.
  89. Chen CP, Chen M, Ko TM, Ma GC, Tsai FJ, Tsai MS, Wu PC, Lee CC, Chen LF, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8.
    Taiwan J Obstet Gynecol. 2010 Dec;49(4):500-505.
  90. Sheth FJ, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, Lelorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.
    Characterization of sSMC by FISH and molecular techniques.
    Eur J Med Genet. 2011 May-Jun;54(3):247-255.
  91. Burnside RD, Ibrahim J, Flora C, Schwartz S, Tepperberg JH, Papenhausen PR, Warburton PE.
    Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.
    Cytogenet Genome Res. 2011;132(4):227-232.
  92. Yu S, Fiedler SD, Brawner SJ, Joyce JM, Zhou XG, Liu HY.
    Characterizing small supernumerary marker chromosomes with combination of multiple techniques.
    Cytogenet Genome Res. 2012;136(1):6-14.
  93. 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 Jan 16;5(1):3.
  94. Ripperger T, Tauscher M, Praulich I, Pabst B, Teigler-Schlegel A, Yeoh A, Göhring G, Schlegelberger B, Flotho C, Niemeyer CM, Steinemann D.
    Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia.
    Br J Haematol. 2011 Oct;155(2):209-217.
  95. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Starý J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML.
    Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
    Nat Genet. 2010 Sep;42(9):794-800.
  96. Midyan S, Hovhannisyan A, Gasparyan A, Klein E, Liehr T, Mkrtchyan H.
    Trisomy 8p11.23 as a result of a dicentric chromosome 8.
    Europ J Hum Genet 20 (Suppl. 1), p 114 (Abstractnr. P03.052).
  97. Hamid AB, Kreskowski K, Weise A, Kosayakova N, Mrasek K, Voigt M, Guilherme RS, Wagner R, Hardekopf D, Pekova S, Karamysheva T, Liehr T, Klein E.
    How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set.
    J Appl Genet. 2012 Aug;53(3):259-269.
  98. Reddy KS, Aradhya S, Meck J, Tiller G, Abboy S, Bass H.
    A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.
    Genet Med. 2013 Jan;15(1):3-13.
  99. Chen CP, Chang SD, Su YN, Chen M, Chern SR, Su JW, Chen YT, Chen WL, Pan CW, Lee MS, Wang W.
    Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis.
    Taiwan J Obstet Gynecol. 2012 Sep;51(3):405-410.
  100. 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.
  101. 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.
  102. Shilova NV, Minzhenkova ME, Markova ZG, Kozlova YO, Antonenko VG, Tsvetkova TG, Zolotukhina TV.
    Characterization of 42 small supernumerary marker chromosomes by FISH methods.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 603 (Abstractnr. J20.07).
  103. Perez Sanchez M, Mora A, Barrionuevo JL, González AR.
    Chromosome markers charazterization by Array-CGH. Case report.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 485 (Abstractnr. P02.50).
  104. Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I, Melaragno MI, Guilherme RS, Stefanou EG, Aktas D, Kreskowski K, Klein E, Ziegler M, Kosyakova N, Volleth M, Hamid AB.
    Complex small supernumerary marker chromosomes - an update.
    Mol Cytogenet. 2013 Oct 31;6(1):46.
  105. Pabst B, Scholz C, Miller K, Schmidtke J, Schlegelberger B, Steinemann D.
    Supernumerary ring chromosome 8 with complex rearrangement.
    MedGen 2014, 26:169.
  106. Imataka G, Ishii J, Tsukada K, Suzumura H, Arisaka O.
    Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant.
    Genet Couns. 2013;24(4):441-444.
  107. Blanchet P, Puechberty J, Lefort G, Cunz-Shadfar D, Baeza Velasco C, Pinson L, Coubes C, Chiesa J, Taviaux S, Geneviève D, Willems M.
    Familial supernumerary chromosome composed of centromeric and pericentromeric regions of chromosome 8 cosegregating with intellectual disability and psychiatric disorder.
    Europ J Hum Genet 2014: 21(Suppl 2): 165 (Abstractnr. P05.042).
  108. Perez Sanchez M, Mora A, Barrionuevo JL, González AR.
    Chromosome markers charazterization by array-CGH. Case report.
    Europ J Hum Genet 2014: 21(Suppl 2):485 (Abstractnr. J02.50).
  109. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  110. Eyüpoğlu FC, Sünnetçi D, Cine N, Savli H, Okten A, Açikgöz EG, Sönmez FM.
    Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
    Genet Couns    . 2014;25(3):305-313.
  111. Vansevičiūtė D, Čiuladaitė Ž, Tumienė B, Utkus A, Kučinskas V.
    De novo case of a mosaic ring supernumerary marker chromosome leading to trisomy of 8p11.22-q11.23 in a boy with development delay and corpus callosum hypoplasia.
    Europ J Hum Genet 2015, 23 Suppl 1: p417 (Abstractno: J09.24).
  112. Wen X, Qi H, Ren J, Yang K, Zhu J, Chen J, Cai L, Zengwen.
    [Detection of small supernumerary marker chromosome by single nucleotide polymorphism microarray chips].
    Zhonghua Er Ke Za Zhi. 2015 Mar;53(3):198-202.
  113. Gorukmez O, Gorukmez O, Sag OS, Yakut T, Gulten T.
    Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): a case report.
    Genet Couns    . 2015;26(2):163-9.
  114. Lopez Melchor M, Guzman Olmedo A, Molina Zayas M, Mora Guijosa A, Perez Sanchez M.
    Caracterizacion de marcadores cromosomicos mediante CGH-array. A proposito de un caso.
    Poster on 8th Congreso Nacinoal del Laboratorio Clinico, Sevillia 2014
  115. Chen CP, Lin SP, Chern SR, Wu PS, Chen YN, Chen SW, Yang CW, Lee MS, Wang W.
    Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability.
    Taiwan J Obstet Gynecol    . 2016 Dec;55(6):856-860.
  116. Chen CP, Lin SP, Lin YH, Chern SR, Wu PS, Chen YN, Chen SW, Yang CW, Chen WL, Wang W.
    Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities.
    Taiwan J Obstet Gynecol. 2016 Dec;55(6):852-855.
  117. Ahram DF, Stambouli D, Syrogianni A, Al-Sarraj Y, Gerou S, El-Shanti H, Kambouris M.
    Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.
    Clin Case Rep    . 2016 Oct 21;4(12):1125-1131.
  118. Al-Rikabi ABH, Pekova S, Fan X, Jančušková T, Liehr T.
    Small supernumerary marker chromosome may provide information on dosage-insensitive pericentric regions in human.
    Curr Genomics 2018; 19:192-199.
  119. 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.
  120. Liehr T, Al-Rikabi A.
    Mosaicism: Reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse autcome. A systematic review.
    Front Genet    . 2019 Nov 11;10:1131.
  121. Xue H, Huang H, Wang Y, An G, Zhang M, Xu L, Lin Y.
    Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.
    Mol Cytogenet    . 2019 Mar 11;12:13.
  122. Kayhan G, Ergün MA, Biri AA, Karaoğuz MY.
    A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation.
    J Turk Ger Gynecol Assoc    . 2011 Sep 1;12(3):183-5.
  123. Altıner Ş, Yürür Kutlay N, Ilgın Ruhi H.
    Mosaic small supernumerary marker chromosome derived from five discontinuous regions of chromosome 8 in a patient with neutropenia and oral aphthous ulcer.
    Cytogenet Genome Res    . 2020;160(1):11-17.
  124. Shao HY, Miao ZY, Liu XY, Hou XF, Wu H.
    Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 associated with congenital hypoplasia of the tongue and review of the literature.
    Taiwan J Obstet Gynecol. 2020 Mar;59(2):323-326. 
  125. Minzhenkova M, Markova Z, Shilova N.
    Five cases of constitutional neocentric supernumerary marker chromosomes.
    ECA-Newsletter 2021, 48, pp29-30. Poster 3.P8.
  126. Markova Z, Minzhenkova M, Tarlicheva A, Shilova N.
    Characterization of small supernumerary marker chromosomes in individuals without phenotypic abnormalities.
    ECA-Newsletter 2021, 48, p39. Poster 3.P29.
  127. Xing HX, Li PB, Cui LM, Jiang JY, Hu NN, Zhang XB.
    Whole exome sequencing facilitated the identification of a mosaic small supernumerary marker chromosome (sSMC).
    Biomed Res Int. 2021 Jul 2;2021:6258527.
  128. Ouboukss F, El Amrani Z, Bouchahta H, Ratbi I, Sbiti A, Liehr T, Sefiani A, Natiq A.
    A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.
    Front Genet. 2024 Feb 23;15:1331676.