ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #5 -                                                              

      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 unpublished data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. 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.
  3. 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.
  4. Masuno M, Imaizumi K, Ishii T, Kimura J, Kuroki Y.
    Supernumerary ring chromosome 5 identified by FISH.
    Am J Med Genet. 1999 Jun 4;84(4):381.
  5. Stankiewicz P, Bocian E, Jakubow-Durska K, Obersztyn E, Lato E, Starke H, Mroczek K, Mazurczak T.
    Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
    J Med Genet. 2000 Feb;37(2):114-120.
  6. Schuffenhauer S, Kobelt A, Daumer-Haas C, Loffler C, Muller G, Murken J, Meitinger T.
    Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.
    Am J Med Genet. 1996 Oct 2;65(1):56-59.
  7. Fritz B, Dietze I, Wandall A, Aslan M, Schmidt A, Kattner E, Schwerdtfeger R, Friedrich U.
    A supernumerary marker chromosome with a neocentromere derived from 5p14-->pter.
    J Med Genet. 2001 Aug;38(8):559-565.
  8. D'Amato Sizonenko L, Ng D, Oei P, Winship I.
    Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.
    Am J Med Genet. 2002 Jul 22;111(1):19-26.
  9. Avansino JR, Dennis TR, Spallone P, Stock AD, Levin ML.
    Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.
    Am J Med Genet. 1999 Nov 5;87(1):6-11.
  10. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714
  11. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. Sarri C, Gyftodimou Y, Grigoriadou M, Pandelia E, Kalogirou S, Kokotas H, Mrasek K, Weise A, Petersen MB.
    Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.
    Cytogenet Genome Res. 2006;114(3-4):330-337.
  17. Liehr T, Starke H, Senger G, Melotte C, Weise A, Vermeesch JR.
    Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC.
    Am J Med Genet A. 2006 Jan 1;140(1):46-51.
  18. Leite RP, Souto M, Carvalho B, Martins M, Chaves R, Morais A, Guedes-Pinto H, Wienberg J, Ribeiro E.
    Identification, characterization and clinical implications of two markers detected at prenatal diagnosis.
    Prenat Diagn. 2006 Oct;26(10):920-924.
  19. 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.
  20. 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.
  21. 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.
  22. Lorda-Sánchez  I, Urioste M, Villa A, Carrascosa MC, Vázquez MS, Martínez A, Martínez-Frías ML.
    Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
    Am J Med Genet. 1997 Feb 11;68(4):476-480.
  23. Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A.
    Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).
    Am J Med Genet A. 2005 Aug 1;136(4):381-385.
  24. Harrison KJ, Teshima IE, Silver MM, Jay V, Unger S, Robinson WP, James A, Levin A, Chitayat D.
    Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.
    Am J Med Genet. 1998 Sep 1;79(2):103-107.
  25. Yip MY, Kemp J, Hanson N, Wilson M, Purvis-Smith S, Lam-Po-Tang PR.
    Duplication of 5q11.2----q13.1 from a familial (5;20) balanced insertion.
    Am J Med Genet. 1989 Jun;33(2):220-223.
  26. 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.
  27. Polityko AD, Lazjuk GI, Liehr T.
    High resolution molecular cytogenetic approaches and study of marker chromosomes.
    Medica Genetics 2008, 7(3):34-40. (in Russian)
  28. Rombout S, Andries S, Sartenear D, Gillerlot Y.
    A case of de novo terminal inverted duplication of chromosome 5 associated with short stature and facial dysmorphism.
    Annales de Genetique 2003, 46(2-3): 259 (abstract no 7.86).
  29. Brandt CA, Crüger D, Pedersen CB, Djernes B, Bruun-Petersen G.
    Supernumerary marker chromosome easily identified by multicolor FISH.
    Cytogenet Cell Genet 1999, 85(1-2):36 (Abstractno: P125)
  30. Schinzel A.
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 245-246
  31. Schinzel A.
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 249-250.
  32. Honer WG, Bassett AS, MacEwan GW, Hurwitz T, Li DK, Hilal S, Prohovnik I.
    Structural brain imaging abnormalities associated with schizophrenia and partial trisomy of chromosome 5.
    Psychol Med. 1992 May;22(2):519-524.
  33. McGillivray BC, Bassett AS, Langlois S, Pantzar T, Wood S.
    Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia.
    Am J Med Genet. 1990 Jan;35(1):10-13
  34. 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.
  35. Ohashi H, Suzumori K, Chisaka Y, Sonta S, Kobayashi T, Aoki Y, Matsubara Y, Sone M, Shaffer LG.
    Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5.
    Am J Med Genet A. 2011 Jan;155(1):192-196.
  36. 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.
  37. Grams SE, Rand L, Norton ME.
    Complete isochromosome 5p in one fetus of a monochorionic twin pair.
    Prenat Diagn. 2011 Jun;31(6):605-607.
  38. Park JP, Barefoot KH, Ornvold K, Berg SZ, Dossu JR, Mohandas TK.
    Prenatal diagnosis of mosaic tetrasomy 5p.
    Prenat Diagn. 2001 May;21(5):351-353.
  39. Paulick J, Tennstedt C, Schwabe M, Körner H, Bommer C, Chaoui R.
    Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and pulmonary atresia with hypoplastic right heart at 14 weeks.
    Prenat Diagn. 2004 May;24(5):371-374.
  40. Reddy KS, Huang B.
    Prenatal management of mosaic tetrasomy 5p.
    Prenat Diagn. 2003 Jan;23(1):82-85.
  41. Venci A, Bettio D.
    Tetrasomy 5p mosaicism due to an additional isochromosome 5p in a man with normal phenotype.
    Am J Med Genet A. 2009 Dec;149A(12):2889-2891.
  42. Hansen LK, Brandrup F, Rasmussen K.
    Pigmentary mosaicism with mosaic chromosome 5p tetrasomy.
    Br J Dermatol. 2003 Aug;149(2):414-416.
  43. Reddy KS, Thangavelu M.
    Trisomy 5p in a prenatal case with ultrasound abnormalities.
    Prenat Diagn. 2003 Jan;23(1):81-82.
  44. Hadzsiev K, Szabó G, Dávid D, Czakó M, Melegh B, Kosztolányi G.
    A girl with the features of Binder syndrome and partial trisomy of the pericentromeric region of chromosome 5.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p (Abstractnr. P02.045)
  45. Curtisova V, Dhaifalah I, Čapkova P, Popelinska E, Tuckova L, Holzerova M.
    Prenatal diagnosis of tetrasomy 5p by CVS and amniocentesis
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 185 (Abstractnr. P05.50)
  46. Melo JB, Backx L, Vermeesch JR, Santos HG, Sousa AC, Kosyakova N, Weise A, von Eggeling F, Liehr T, Carreira IM.
    Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.
    J Appl Genet. 2011 May;52(2):193-200.
  47. Guicher A, Colin E, Boussion F, Barth M, Bonneu D.
    Mosaic tetrasomy 5p confirmed after birth following prenatal finding of a single isochromosome 5p colony: a report of two cases
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S207-208 (Abstractnr. 10.P13 - information from poster)
  48. Brock JA, Dyack S, Ludman M, Dumas N, Gaudet M, Morash B.
    Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature.
    Am J Med Genet A. 2012 Feb;158A(2):406-411.
  49. Sijmons RH, Leegte B, van Lingen RA, de Pater JM, van der Veen AY, del Canho H, Bos C, ten Kate LP, Breed AS.
    Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)].
    Am J Med Genet. 1993 Sep 15;47(4):559-562.
  50. Stanley WS, Powell CM, Devine GC, Ellingham T, Samango-Sprouse CA, Vaught DR, Murphy BA, Rosenbaum KN.
    Mosaic 5p tetrasomy.
    Am J Med Genet. 1993 Mar 15;45(6):774-776.
  51. 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.
  52. 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.
  53. 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 Oct;20(7):825-835.
  54. 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.
  55. 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.
  56. Sheth FJ, Liehr T, Kumari P, Akinde R, Sheth HJ, Sheth JJ.
    Chromosomal abnormalities in couples with repeated fetal loss: an Indian retrospective study.
    Indian J Hum Genet 2013, 19: 415-422.
  57. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  58. Schlegel Z, Valent A, Hirsch A.
    Partial mosaic trisomy 5: a new case report with ocular involvement.
    J Fr Ophtalmol    . 2009 Oct;32(8):533-539.
  59. Roulet-Coudrier F, Rouibi A, Thuillier C, Bourthoumieu S, Lebbar A, Dupont JM, Yardin C.
    Unusual isochromosome 5p marker chromosome.
    Am J Med Genet A. 2015 Feb;167(2):455-459.
  60. Hadzsiev K, Dávid D, Szabó G, Czakó M, Melegh B, Kosztolányi G.
    Partial trisomy of the pericentromeric region of chromosome 5 in a girl with Binder phenotype.
    Cytogenet Genome Res    . 2014;144(3):190-195.
  61. Krimmel E, Wahl D, Ovens-Raeder A, Heinrich U, Rost I.
    Discordant prenatal and postnatal cytogenetic findings in a case of de novo complete trisomy 5p.
    Europ J Hum Genet 2015, 23 Suppl 1: p233 (Abstractno: PS11.127).
  62. Tesner P, Drabova J, Stolfa M, Kudr M, Kyncl M, Moslerova V, Novotna D, Kremlikova Pourova R, Kocarek E, Rasplickova T, Sedlacek Z, Vlckova M.
    A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
    Mol Cytogenet    . 2018 May 9;11:29.
  63. Armstrong ME, Weaver DD, Lah MD, Vance GH, Landis BJ, Ware SM, Helm BM.
    Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.
    Mol Cytogenet    . 2018 Mar 27;11:23.
  64. Samanta D, Schaefer B.
    Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome.
    Acta Neurol Belg. 2020 Jun;120(3):713-716.
  65. Blakey-Cheung S, Parker P, Schlaff W, Monseur B, Keppler-Noreuil K, Al-Kouatly HB.
    Diagnosis and clinical delineation of mosaic tetrasomy 5p.
    Eur J Med Genet    . 2020 Jan;63(1):103634.
  66. Wilson SC, Susman M, Bain S, Wohlferd M, Van Dyke D, Daniel A, White B, Gardner RJ.
    Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis.
    Prenat Diagn    . 2002 Aug;22(8):681-5.
  67. Camerota L, Pitzianti M, Postorivo D, Nardone AM, Ligas C, Moretti C, Pasini A, Brancati F.
    A small supernumerary marker derived from the pericentromeric region of chromosome 5: Case report and delineation of partial trisomy 5p phenotype.
    Cytogenet Genome Res    . 2017;153(1):22-28.
  68. 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.
  69. He T, Liu Y, Yang Y.
    [Clinical and genetic analysis of a rare case with mosaic partial trisomy 5p syndrome]
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020;37(9):1032-1035.
  70. Fan J, Zeng Y, Luo T, Che M.
    [Cytogenetic and molecular genetic analysis of three cases with small supernumerary marker chromosomes].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Mar 10;38(3):264-267.
  71. Yi D, Yuan S, Hu L, Gong F, Luo K, Hu H, Tan Y, Lu G, Lin G, Cheng D.
    [Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):519-525. Chinese.