ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #17 -                                                              

      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 unpublished data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. Liehr T, Claussen U
    Multicolor-FISH approaches for the characterization of human chromosomes in clinical genetics and tumor cytogenetics. 
    Current Genomics 2002. 3(3): 213-235.
  3. 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.
  4. Dupont C, Pipiras E, Chantot-Bastaraud S, Verloes A, Baumann C, Wolf JP, Benzacken B.
    CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
    Eur J Hum Genet. 2003 Jun;11(6):452-456.
  5. Rosenberg C, Borovik CL, Canonaco RS, Sichero LC, Queiroz AP, Vianna-Morgante AM.
    Identification of a supernumerary marker derived from chromosome 17 using FISH.
    Am J Med Genet. 1995 Oct 23;59(1):33-35.
  6. Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR.
    A clinical and molecular study of mosaicism for trisomy 17.
    Hum Genet. 1996 Jan;97(1):69-72.
  7. Wiktor A, Van Dyke DL, Weiss L.
    Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).
    Am J Med Genet. 1993 Jan 1;45(1):22-24.
  8. Brondum-Nielsen K, Mikkelsen M.
    A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples.
    Prenat Diagn. 1995 Jul;15(7):615-619.
  9. Morrison PJ, Smith NM, Martin KE, Young ID.
    Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation.
    Am J Med Genet. 1997 Jan 10;68(1):50-53.
  10. 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.
  11. Andersen LB, Tommerup N, Koch J.
    Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis.
    Cytogenet Cell Genet. 1990;53(4):206-210.
  12. Stankiewicz P, Parka SS, Holder SE, Waters CS, Palmer RW, Berend SA, Shaffer LG, Potocki L, Lupski JR.
    Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
    Clin Genet. 2001 Nov;60(5):336-344. Erratum in: Clin Genet 2002 Feb;61(2):167. Clin Genet. 2003 Jun;61(6):472.
  13. Jarmuz M, Zawada M, Wolnik-Brozowska D, Mazurek M, Latos-Bielenska A.
    The region of chromosome 17p11.2 identified by FISH in the additional marker chromosome in Charcot-Marie-Tooth 1A disease.
    Cytogenet Cell Genet. 1999; 85:38.
  14. Waters K, Palmer RW, Holder S.
    Mosaic partial trisomy 17p due to a marker identified by fluorescence in situ hybridisation (FISH) studies
    J Med Genet. 1999; 36: S51.
  15. Engelen JJ, Loots WJ, Motoh PC, Moog U, Hamers GJ, Geraedts JP.
    Marker chromosome identification by micro-FISH.
    Clin Genet. 1996 May;49(5):242-248. Erratum in: Clin Genet 1996 Jun;49(6);333-334.
  16. Kulharya AS, Garcia-Heras J, Radtke HB, Norris KS, Keppen LD, Flannery DB.
    Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker.
    Clin Genet. 1998 Nov;54(5):421-425.
  17. Shabtai F, Shalev A, Chemke J, Halbrecht I, Elian E.
    Pure trisomy 17p in 60% cells.
    Hum Genet. 1979;52(3):263-268.
  18. Ravnan JB, Ouellette K, Fabre A, Crenshaw DC, Guillory S, Siewert R, McCoy S; Kothari J.
    A stable acentric marker chromosome formed by interstitial deletion of 17q and subsequent inverted duplication of the deleted segment resulting in partial trisomy 17q22 to 17q23 diagnosed in dysmorphic newborn.
    Am J Hum Genet 1999; 65(Suppl.) A356.
  19. Kozma C, Blancato J, Meck J, Jiang Y.
    Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA.
    Am J Med Genet. 1998 Apr 28;77(1):19-22.
  20. Friedman JM, Harrod MJ, Howard-Peebles PN.
    Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment.
    Am J Med Genet. 1992 Sep 1;44(1):37-40.
  21. Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR.
    Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
    Hum Genet. 2004 Jun;115(1):1-7.
  22. Lupski JR, Yatsenko SA, Treadwell-Deering D, Krull K, Glaze D, Horz M, Stankiewicz P, Potocki L
    Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype and comparison to other proximal 17p segmental duplications.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 142 (Abstractnummer 686).
  23. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  24. Kocarek E, Novotna D, Marikova T, Cernakova I, Losan F, Balicek P, Baxova A, Havlovicova M, Goetz P.
    [Case reports of patients with a marker chromosome]
    Cas Lek Cesk. 2004;143(10):708-711; discussion 711-712.
  25. 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):1192-1204.
  26. Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.
    Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
    Am J Med Genet A. 2005 Oct 1;138(2):175-180.
  27. 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.
  28. Rudd MK, Mays RW, Schwartz S, Willard HF.
    Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag.
    Mol Cell Biol. 2003 Nov;23(21):7689-7697.
  29. Wevrick R, Earnshaw WC, Howard-Peebles PN, Willard HF.
    Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement.
    Mol Cell Biol. 1990 Dec;10(12):6374-6380.
  30. Morelli SH, Deubler DA, Brothman LJ, Carey JC, Brothman AR.
    Partial trisomy 17p detected by spectral karyotyping.
    Clin Genet. 1999 May;55(5):372-375.
  31. Lurie IW, Gurevich DB, Binkert F, Schinzel A.
    Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus.
    Clin Dysmorphol. 1995 Jan;4(1):25-32.
  32. Kozma C, Meck JM, Loomis KJ, Galindo HC.
    De novo duplication of 17p [dup(17)(p12----p11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects.
    Am J Med Genet. 1991 Dec 15;41(4):446-450.
  33. Magenis RE, Brown MG, Allen L, Reiss J.
    De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.
    Am J Med Genet. 1986 Jul;24(3):415-420.
  34. 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.
  35. 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.
  36. Balarin MA, da Silva Lopes VL, Varella-Garcia M.
    A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome.
    Am J Med Genet. 1999 Jan 15;82(2):183-186.
  37. Docherty Z, Hultén MA, Honeyman MM.
    De novo tandem duplication 17p11 leads to cen.
    J Med Genet. 1983 Apr;20(2):138-142.
  38. Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR.
    Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.
    J Investig Med. 2003 Sep;51(5):261-283. Review. Erratum in: J Investig Med. 2004 Jan;52(1):50.
  39. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR.
    Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
    Am J Hum Genet. 2007 Apr;80(4):633-649.
  40. Lurie IW, Gurevich DB, Binkert F, Schinzel A.
    Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus.
    Clin Dysmorphol. 1995 Jan;4(1):25-32.
  41. Paskulin GA, Zen PR, Rosa RF, Manique RC, Cotter PD.
    Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17.
    Am J Med Genet A. 2007 Jun 15;143A(12):1366-1370.
  42. Vogt J, Hill S, Brueton L.
    Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.
    Eur J Med Genet. 2006 Sep-Oct;49(5):439-443.
  43. 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.
  44. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 703-706.
  45. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 707-708.
  46. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 710-712.
  47. Lee B, Park S, Lee M, Kim J, Park J, Han J, Kang I, Yang K, Ryu H.
    Characterization of mosaic supernumerary marker chromosomes using MFISH: origin from chromosome 1, 16 and 17.
    Chr Res 2009, 17(Supl. 1):S180 (Abstractno: 11.7-P).
  48. Manolakos E, Thomaidis L, Lagou M, Neroutsou R, Kefalas K, Louizou E, Rapti M, Kontodiou M, Triga N, Tsoplou P, Liehr T , Petersen MB, Metaxotou A.
    Supernumerary minute chromosome 17 in a boy with severe developmental delay: molecular breakpoint in the unstable proximal 17p region.
    Europ J Hum Genet 2010, 18 Suppl 1: 113 (Abstractnr. P03.047).
  49. 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.
  50. Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ.
    Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.
    Mol Cytogenet 2011; 4:2.
  51. Capovia P, Godava M, Hyjanek J, Hajduch M, Santavy J.
    Potocki-Lupski syndrome and Turner syndrome in two patients with mosaicism for a marker chromosomes
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S37 (Abstractnr. 1.P02 - information from poster)
  52. Yakut S, Cetin Z, Berker-Karauzum S, Mihci E, Mendilcioglu I, Luleci G.
    De novo supernumerary marker chromosome originating from chromosome 17 resulting in a normal pregnancy outcome.
    Genet Couns. 2011;22(1):63-68.
  53. Caselli R, Ballarati L, Selicorni A, Milani D, Maitz S, Valtorta C, Larizza L, Giardino D.
    A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
    Eur J Med Genet. 2010 Sep-Oct;53(5):325-328.
  54. 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.
  55. Boutry-Kryza N, Labalme A, Till M, Schluth-Bolard C, Langue J, Turleau C, Edery P, Sanlaville D.
    An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.
    Am J Med Genet A. 2012 Feb;158A(2):400-405.
  56. Butler MS, Ning Y.
    Improved Detection of a Small Marker Chromosome with Repetitive Sequence-Depleted FISH Probe.
    J Assoc Genet Technol. 2009;35(4):164-166.
  57. Writzl K, Veble A, Lovrečić L, Liehr T, Peterlin B.
    Microduplication of 17q22q23.2 due to a supernumerary marker chromosome in a girl with macrocephaly and global developmental delay.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 89 (Abstractnr. P02.17).
  58. Tesner P, Zidovska J, Vlckova M, Vseticka J, Klimova A, Drabova J, Kocarek E.
    Four prenatally diagnosed supernumerary marker chromosomes - their molecular-cytogenetic analysis and clinical consequences.
    Chromosome Res 2013, 21:S154 (Abstractnr. 13.P36)
  59. 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.
  60. Hovnik T, Bertok S, Lovrečić L, Volk M, Kovač J, Battelino T. Identification of de novo sSMC 17 associated with developmental delay and dysmorphic features.AABC2013, 10th Balkan congress of human genetics 2nd Alpe Adria meeting of human genetics, Bled, Slovenia 10. – 12. October 2013, p155 (Abstractno P8.1).
  61. Writzl K, Veble A, Lovrečić L, Liehr T, Peterlin B.
    Microduplication of 17q22q23.2 due to a supernumerary marker chromosome in a girl with macrocephaly and global developmental delay.
    Europ J Hum Genet 2014: 21(Suppl 2):89 (Abstractnr. P02.017).
  62. Yakut S, Cetın Z, Sımşek M, Mendıcıoğlu II, Toru HS, Karaüzüm SB, Lülecı G.
    Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases.
    Turk Patoloji Derg
    . 2015;31(1):36-44.
  63. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  64. Cornelius N, Bertelsen B, Melchior L, Nazaryan L, Debes NM, Groth C, Skov L, Tümer Z.
    A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature.
    Psychiatry Res. 2015 Jul 30;228(1):179-181.
  65. Bertelsen B, Debes NM, Hjermind LE, Skov L, Brøndum-Nielsen K, Tümer Z.
    Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
    Neurogenetics. 2013 Nov;14(3-4):197-203.
  66. Kurinnaia OS, Vorsanova SG, Zelenova MA, Sharonin VO, Yurov YB, Iourov IY.
    Potocki-Lupski syndrome due to a small supernumerary marker chromosome derived from chromosome 17.
    Europ J Hum Genet 2015, 23 Suppl 1: p232 (Abstractno: PM11.120).
  67. Chen CP, Chiang S, Wang KL, Cho FN, Chen M, Chern SR, Wu PS, Chen YN, Chen SW, Chang SP, Chen WL, Wang W.
    Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay.
    Taiwan J Obstet Gynecol. 2016 Jun;55(3):419-22.
  68. Wang Y, Cheng Q, Meng L, Luo C, Hu H, Zhang J, Cheng J, Xu T, Jiang T, Liang D, Hu P, Xu Z.
    Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study.

    Clin Genet
    . 2017 Jun;91(6):849-858
  69. Stavber L, Bertok S, Kovač J, Volk M, Lovrečić L, Battelino T, Hovnik T.
    Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.
    Mol Cytogenet. 2017 Mar 23;10:10.
  70. Mendez-Rosado LA, Lantigua A, Galarza J, Hamid Al-Rikabi AB, Ziegler M, Liehr T.
    Unusual de novo partial trisomy 17p12p11.2 due to unbalanced insertion into 5p13.1 in a severely affected boy.
    J Pediatr Genet
    . 2017 Sep;6(3):165-168.
  71. Tesner P, Vlckova M, Drabova J, Vseticka J, Klimova A, Lastuvkova J, Zidovska J, Kremlikova Pourova R, Hancarova M, Sedlacek Z, Kocarek E.
    Molecular cytogenetic diagnostics of marker chromosomes: Analysis in four prenatal cases and long-term clinical evaluation of carriers.
    Cytogenet Genome Res
    . 2018;154(4):187-195.
  72. Vetro A, Manolakos E, Petersen MB, Thomaidis L, Liehr T, Croci G, Franchi F, Marinelli M, Meneghelli E, Dal Bello B, Cesari S, Iasci A, Arrigo G, Zuffardi O.
    Unexpected results in the constitution of small supernumerary marker chromosomes.
    Eur J Med Genet
    . 2012 Mar;55(3):185-90.
  73. Su L, Wu X, Liang B, Lin N, Xie X, Cai M, Zheng L, Wang M, Xu L.
    Fetal mosaicism, should conventional karyotype always be performed?
    J Obstet Gynaecol Res. 2023 Oct 16. doi: 10.1111/jog.15804. Epub ahead of print.