ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #19 -                                                              

      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 unpublished data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. 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.
  3. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M.
    Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
    Prenat Diagn. 1994 Nov;14(11):1019-1028.
  4. 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.
  5. Ghaffari SR, Boyd E, Connor JM, Jones AM, Tolmie JL.
    Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.
    J Med Genet. 1998 Oct;35(10):836-840.
  6. Michalski K, Rauer M, Williamson N, Perszyk A, Hoo JJ.
    Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes.
    Am J Med Genet. 1993 Apr 1;46(1):88-94.
  7. Quack B, Van Roy N, Verschraegen-Spae MR, Klein F.
    Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
    Ann Genet. 1992;35(4):241-244.
  8. 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.
  9. de Albuquerque Coelho KE, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N.
    Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.
    Am J Med Genet. 1996 Jun 14;63(3):468-471.
  10. 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.
  11. Crolla JA, Long F, Rivera H, Dennis NR.
    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. 1998 Feb 3;75(4):355-366.
  12. Vaz I, Larkins SA, Norman A, Green SH.
    Mild developmental delay due to ring chromosome 19 mosaicism.
    Dev Med Child Neurol. 1999 Jan;41(1):48-50.
  13. Shahwan A, Green AJ, Carey A, Stallings RL, O'Flaherty OC, King MD.
    Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19.
    Epilepsia. 2004;45(8):997-1000.
  14. Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ, Norton ME.
    Prenatal diagnosis of minute supernumerary marker chromosomes.
    Gynecol Obstet Invest. 2005; 60(1):27-38.
  15. Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Digilio MC, Mingarelli R, Dallapiccola B.
    Pure trisomy 19p syndrome in an infant with an extra ring chromosome.
    Cytogenet Genome Res. 2005;111(2):182-185.
  16. 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.
  17. 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.
  18. Felbor U, Rutschow D, Haaf T, Schmid M.
    Centromeric association of chromosome 16- and 18-derived microchromosomes.
    Hum Genet. 2002 Jul;111(1):16-25.
  19. 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.
  20. 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.
  21. 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.
  22. Zung A, Rienstein S, Rosensaft J, Aviram-Goldring A, Zadik Z.
    Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation.
    Horm Res. 2007;67(3):105-110.
  23. 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.
  24. Vranekovic J, Brajenovic-Milic B, Kapovic M.
    Identification of a supernumerary marker chromsome dereived from chromosome 19p.
    Chr Res 2007, Vol 15 Suppl. 1, p 29 (Abstractnr. 1.14-P - information from poster)
  25. 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.
  26. Caliebe A, Husemeyer N, Martin-Subero J-I, Gesk S, Stefanova I, Gillessen-Kaesbach G, Bruhn K, Stephani U, Kautza M, Krüger G, Weimer J, Tönnies H, Siebert R.
    Oligonucleotide array-CGH in postnatal cytogenetics - Kiel experiences.
    MedGen 2008, Vol 20, p 92 (Abstractnr. P037 - information from poster).
  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. Pierluigi M, Parmeggiani A, Perfumo C, Cali A, Gordon LA, Fraticelli E, Giovanardi Rossi P, Dagna Bricarelli F
    Supernumerary mosaic ring chromosome 19 in a patient with epilepsy.
    Cytogenet Cell Genet 1997; 77: 62 (Abstractno. P39).
  29. Vraneković J, Brajenović-Milić B, Modrusan-Mozetić Z, Babić I, Kapović M.
    Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p.
    Cytogenet Genome Res. 2008;121(3-4):298-301.
  30. Stratton RF, DuPont BR, Olsen AS, Fertitta A, Hoyer M, Moore CM.
    Interstitial duplication 19p.
    Am J Med Genet. 1995 Jul 17;57(4):562-564.
  31. Salbert BA, Solomon M, Spence JE, Jackson-Cook C, Brown J, Bodurtha J.
    Partial trisomy 19p: case report and natural history.
    Clin Genet. 1992 Mar;41(3):143-146.
  32. Quack B, Van Roy N, Verschraegen-Spae MR, Klein F.
    Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
    Ann Genet. 1992;35(4):241-244.
  33. Lange M, Alfi OS.
    Trisomy 19 q.
    Ann Genet. 1976 Mar;19(1):17-21.
  34. Rivas F, García-Cruz D, Rivera H, Plascencia ML, González RM, Cantú JM.
    19q distal trisomy due to a de novo (19;22)(q13.2;p11) translocation.
    Ann Genet. 1985;28(2):113-115.
  35. Valerio D, Lavorgna F, Scalona M, Conte A.
    A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.
    J Med Genet. 1993 Aug;30(8):697-699.
  36. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 788-789.
  37. 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.
  38. Dennis TR, Raptoulis GN, Stalker HJ, Boles D, Meck JM, Krasnewich DM, Schiffmann R, Zori RT.
    Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
    Am J Med Genet A. 2009 Jan 15;149A(2):262-265.
  39. Kulikowski L, Jehee FMS, Pelegrino R, Rosolen DCB, Antonangelo L, Buratini MN, Smith MAC, Melaragno MI.
    Small Supernumerary Marker Chromosomes characterization elucidated by array techniques.
    ASHG 2009; abstract only online, information from poster.
  40. 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.
  41. Faucz FR, Souza J, Bonalumi A, Sotomaior VS, Frantz E, Antoniuk S, Mokry J, Raskin S.
    Mosaic partial trisomy 19p12-q13.11 in Asperger Syndrome due to a small supernumerary marker chromosome, suspected through array-based comparative genomic hybridization.
    ASHG 2010; abstract 1224 - only online.
  42. Bocian E, Nowakowska B, Obersztyn E, Borg K, Chudoba I, Kostyk E, Kruczek A, Pietrzyk J, Mazurczak T.
    [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].
    Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):211-225. Polish.
  43. Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE.
    Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.
    Am J Med Genet A. 2011; 155:885-891.
  44. Faucz FR, Souza J, Filho AB, Sotomaior VS, Frantz E, Antoniuk S, Rosenfeld JA, Raskin S.
    Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?
    Am J Med Genet A. 2011 Sep;155(9):2308-2310.
  45. Melis D, Genesio R, Del Giudice E, Taurisano R, Mormile A, D'Elia F, Conti A, Imperati F, Andria G, Nitsch L.
    Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring.
    Clin Dysmorphol. 2012 Jan;21(1):27-32.
  46. 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.
  47. Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR.
    Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
    J Med Genet. 2011 Dec;48(12):831-839.
  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 Jan 16;5(1):3.
  49. Zagorac A, Ogrizek Pelkic K, Kokalj Vokac N.
    Array-CGH identification of de novo mosaic supernumerary marker chromosome 19 in prenatal diagnosis.
    Europ J Hum Genet 20 (Suppl. 1), p 149, Abstractnr. P05.33).
  50. 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.
  51. 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.
  52. 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.
  53. 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.
  54. 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.
  55. Risheg H, Pasion R, Schwartz S, Prijoles E, Keitges EA.
    Interstitial duplications of 19p13.3.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p823 (Abstractnummer 3218T).
  56. Demily C, Rossi M, Chesnoy-Servanin G, Martin B, Poisson A, Sanlaville D, Edery P.
    Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.
    BMC Med Genet. 2014 Dec 11;15(1):132.
  57. 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.
  58. Recalcati MP, Bonati MT, Beltrami N, Cardarelli L, Catusi I, Costa A, Garzo M, Mammi I, Mattina T, Nalesso E, Nardone AM, Postorivo D, Sajeva A, Varricchio A, Verri A, Villa N, Larizza L, Giardino D.
    Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
    Eur J Med Genet    . 2018 Mar;61(3):173-180.
  59. Lugli L, Malacarne M, Cavani S, Pierluigi M, Ferrari F, Percesepe A.
    A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.
    JAppl Genet. 2011 Aug;52(3):335-9.
  60. Wilson BT, Newby R, Watts K, Hellens SW, Zwolinski SA, Splitt MP.
    A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?
    Clin Dysmorphol. 2012 Jan;21(1):33-6.
  61. Hall CE, Cunningham JJ, Hislop RG, Berg JN.
    A boy with supernumerary mosaic trisomy 19q, involving 19q13.11-19q13.2, with macrocephaly, obesity and mild facial dysmorphism.
    Clin Dysmorphol. 2010 Oct;19(4):218-21.
  62. Vibe E, Heinrich U, Krimmel E-M, Wahl D, Rost I.
    Supernumerary ring chromosome 19 mosaicism in a child with epileptic encephalopathy
    Abstracts of the annual meeting Weimar 2019, German Society of Human Genetics. P-CytoG-149.
  63. Mariya T, Kato T, Sugimoto T, Miyai S, Inagaki H, Ohye T, Sugihara E, Muramatsu Y, Mizuno S, Kurahashi H.
    Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.
    J Hum Genet. 2    022 Jun;67(6):363-368.