ChromosOmics - Database

Icon by Leon Liehr                  

                                                     - REFERENCES for #14 -                                                              

      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 unpublished data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. Liehr T, Nietzel A, Starke H, Heller A, Weise A, Kuechler A, Senger G, Ebner S, T Martin, Stumm M, Wegner R, Tönnies H, Hoppe C, Claussen U, von Eggeling F.
    Characterization of small marker chromosomes (SMC) by recently developed molecular cytogenetic approaches.
    J Ass Genet Techn 2003, 29:5-10.
  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. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Stetten G, Blakemore KJ, Courter AM, Coss CA, Jabs EW.
    Prenatal identification of small mosaic markers of different chromosomal origins.
    Prenat Diagn. 1992 Feb;12(2):83-91.
  11. Pierluigi M, Battaglia P, Perfumo C, Baroncini A, Bricarelli FD.
    Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms.
    Ann Genet. 1997;40(2):99-103.
  12. Viersbach R, Engels H, Gamerdinger U, Hansmann M.
    Delineation of supernumerary marker chromosomes in 38 patients.
    Am J Med Genet. 1998 Apr 1;76(4):351-358.
  13. 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.
  14. 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.
  15. Ning Y, Laundon CH, Schrock E, Buchanan P, Ried T.
    Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping.
    Prenat Diagn. 1999 May;19(5):480-482.
  16. Crolla JA, Dennis NR, Jacobs PA.
    A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.
    J Med Genet. 1992 Oct;29(10):699-703.
  17. George AM, Hallam L, Oei P, McGaughran J.
    Prenatal diagnosis of partial tetrasomy 14: a case study.
    Prenat Diagn. 2002 Feb;22(2):127-130.
  18. Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G.
    Infertility in carriers of two bisatellited marker chromosomes.
    Clin Genet. 1993 Aug;44(2):71-75.
  19. Kirchhoff M, Rose H, Lundsteen C.
    High resolution comparative genomic hybridisation in clinical cytogenetics.
    J Med Genet. 2001 Nov;38(11):740-744.
  20. Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA.
    Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes.
    Am J Med Genet. 1992 Jul 1;43(4):709-715.
  21. Magnani I, Sacchi N, Darfler M, Nisson PE, Tornaghi R, Fuhrman-Conti AM.
    Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting.
    Clin Genet. 1993 Apr;43(4):180-185.
  22. Sacchi N, Magnani I, Fuhrman-Conti AM, Monard SP, Darfler M.
    A stable marker chromosome with a cryptic centromere: evidence for centromeric sequences associated with an inverted duplication.
    Cytogenet Cell Genet. 1996;73(1-2):123-129.
  23. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  24. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  25. Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB.
    American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
    Genet Med. 2001 May-Jun;3(3):206-211.
  26. Lee-Jones L, Williams T, Little E, Sampson J.
    Trisomy 14pter --> q21: a case with associated ovarian germ cell tumor and review of the literature.
    Am J Med Genet. 2004 Jul 1;128A(1):78-84.
  27. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  28. Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E, Heil I, Schuler H, Korsch E, Schwanitz G.
    Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.
    Am J Med Genet A. 2005;134(3):305-308.
  29. Nuessle NS, Miles JH
    Proximal tetrasomy 14q syndrome.
    Am J Hum Genet 1988, 43, abstact A63.
  30. Isobe M, Sadamori N, Russo G, Shimizu S, Yamamori S, Itoyama T, Yamada Y, Ikeda S, Ichimaru M, Kagan J, Croce CM.
    Rearrangements in the human T-cell-receptor alpha-chain locus in patients with adult T-cell leukemia carrying translocations involving chromosome 14q11.
    Cancer Res. 1990;50(19):6171-6175.
  31. 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.
  32. 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.
  33. 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.
  34. Fdez-Novoa C, Vargas MT, Torres F, Munoz J.
    Partial tetrasomy chromosome 14. A new prenatal diagnosis case.
    Prenat Diagn. 2006 Aug;26(8):746-749.
  35. Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G.
    Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.
    Am J Med Genet A. 2006 Aug 11;140A(19):2039-2049
  36. Faas BH, Van Der Deure J, Wunderink MI, Merkx G, Brunner HG.
    Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.
    Genet Couns. 2006;17(3):349-357.
  37. Cockwell AE, Jacobs PA, Crolla JA.
    Distribution of the D15Z1 copy number polymorphism.
    Eur J Hum Genet. 2007;15:441-445.
  38. 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.
  39. 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.
  40. Kaluzewski B, Mastalerz-Eckelsdorf A, Plowas I, Helszer Z, Constantinou M.
    The usefulness of comparative genomic hybridization (CGH) in genetics counselling process.
    Chr Res 2007, Vol 15 Suppl. 1, p 121 (Abstractnr. 1.225-P - information from poster)
  41. Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P, Bennetts B, Edwards M.
    Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14.
    Am J Med Genet A. 2007 Aug 13;143A(18):2165-2171.
  42. Stahl BC, Patil SR, Syrop CH, Sparks AE, Wald M.
    Supernumerary minute ring chromosome 14 in a man with primary infertility and left varicocele.
    Fertil Steril. 2007 May;87(5):1213.e1-3.
  43. 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.
  44. Ohta T, Tohma T, Soejima H, Fukushima Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N.
    The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.
    Hum Genet. 1993 Aug;92(1):1-5.
  45. 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.
  46. Kirchhoff M, Gerdes T, Brunebjerg S, Bryndorf T.
    Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.
    Am J Med Genet A. 2005 Dec 15;139(3):231-233.
  47. 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)
  48. Kuglik P, Vaclavik P, Oltova A, Popelinska E, Wernerova V.
    The identification of supernumerary marker chromosomes in five patients by fluorescent in situ hybridization.
    Cytogenet Cell Genet 1999, 85(1-2):39 (Abstractno: P137).
  49. Thangavelu M, Pergament E, Espinosa R 3rd, Bohlander SK.
    Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization.
    Prenat Diagn. 1994 Jul;14(7):583-588.
  50. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 607-608.
  51. Coco R, Penchaszadeh VB.
    Partial trisomy 14q and familial translocation (2;14) (q12;q13).
    Ann Genet. 1977 Mar;20(1):41-44.
  52. Faugeras C, Barthe D.
    [Proximal trisomy 14. Clinical and cytogenetic study. Apropos of a new case]
    Ann Pediatr (Paris). 1986 Jan;33(1):55-58. French.
  53. Lemire EG, Cardwell S.
    Unusual phenotype in partial trisomy 14.
    Am J Med Genet. 1999 Dec 3;87(4):294-296.
  54. Reiss JA, Wyandt HE, Magenis RE, Lovrien EW, Hecht F.
    Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-).
    J Med Genet. 1972 Sep;9(3):280-286.
  55. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 611-615.
  56. Murru R, Angiolucci M, Martorana L, Azzena A, Deidda S, Licheri V, Vivanet C, Serra G, Orru' S, Carcassi C.
    Cytogenetic and  molecular characterization of a small supernumerrary marker chromosome (sSMC) found at prenatal diagnostics.
    Chr Res 2009, 17(Supl. 1):S233 (Abstractno: 13.63-P).
  57. 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.
  58. Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Μalathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.
    Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
    Mol Med Rep 2010, 3:1015-1022.
  59. 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.
  60. 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.
  61. Sheth F, Ewers E, Kosyakova N, Weise A, Sheth J, Desai M, Andrieux J, Vermeesch J, Hamid AB, Ziegler M, Liehr T.
    A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report.
    Mol Cytogenet. 2009 Nov 12;2:22.
  62. Winberg J, Lagerstedt Robinson K, Liedén A, Anderlid B, Graff C, Nordenskjöld A, Nordgren A, Gustavsson P.
    Partial tetrasomy 14 associated with multiple malformations.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 124 (Abstractnr. P02.235)
  63. Schwanitz G, Korsch E, Gamerdinger U, Heidrich-Kaut C, Schubert R, Spengler S, Eggermann T.
    Longitudinal studies in a rare case of mosiac tetrasomy 14q13.1.
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S47 (Abstractnr. 1.P20 - information from poster)
  64. Vundinti BR, Korgaonkar S, Ghosh K.
    Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome.
    Indian J Pediatr. 2009 Dec;76(12):1265-1267.
  65. Kubota T, Sakazume S, Nagai T, Kamiyama M, Ichikawa K, Sato H, Saito S.
    Validation studies of a disease-oriented whole-genome scanning as a diagnostic test for genetic and structural variations.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1279W.
  66. Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S.
    West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
    Am J Med Genet A. 2011 Oct;155A(10):2584-2588.
  67. Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN.
    Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.
    BJOG. 2012 Apr;119(5):614-625.
  68. 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.
  69. Moore CM, Barnum K, Kaye CI, Kagan-Hallett KS, Liang JC.
    Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.
    Hum Genet. 1992 May;89(3):307-310.
  70. 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.
  71. 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.
  72. 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.
  73. 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.
  74. Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P.
    Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
    Mol Cytogenet. 2013 Oct 30;6(1):45.
  75. Qi M, Zhao Y, Wang Y, Li T.
    A new small supernumerary marker chromosome involving 14pter→q12 in a child with severe neurodevelopmental retardation: Case report and literature review.
    Gene. 2013 Dec 1;531(2):457-461.
  76. Guilherme RS, Dutra AR, Perez AB, Takeno SS, Oliveira MM, Kulikowski LD, Klein E, Hamid AB, Liehr T, Melaragno MI.
    First report of a small supernumerary der(8;14) marker chromosome.
    Cytogenet Genome Res. 2013;139(4):284-288.
  77. Dutta UR, Pidugu VK, Dalal A.
    Partial proximal trisomy 14: identification and molecular characterization in a girl with global developmental delay.
    Genet Couns. 2013;24(2):207-216.
  78. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  79. Sun M, Zhang H, Li G, Wang X, Lu X, Sternenberger A, Guy C, Li W, Lee J, Zheng L, Li S.
    16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.
    Mol Cytogenet. 2014 Nov 25;7(1):76.
  80. Pecile V, Cleva L, Fabretto A, Cappellani S, Bedon L, Lenzini E.
    Frequency of uniparental disomy in 836 patientsm with pathological findings.
    Chromosome Res 2015, 23,Suppl 1: S52-53 (Abstractno: 1.P38).
  81. Alosi D, Klitten LL, Bak M, Hjalgrim H, Møller RS, Tommerup N.
    Dysregulation of FOXG1 by ring chromosome 14.
    Mol Cytogenet. 2015 Apr 9;8:24.
  82. 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.
  83. Tomaszewska A, Behrendt J, Boter M, Wawrzkiewicz-Witkowska A, Bos MJ, Podbiol-Palenta A, Godula-Stuglik U, Galjaard RJ, Srebniak MI.
    The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.

    Am J Med Genet A. 2016 May;170(5):1283-7.
  84. Sun M, Zhang H, Li G, Guy CJ, Wang X, Lu X, Gong F, Lee J, Hassed S, Li S.
    Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.
    Sci Rep. 2017 Sep 4;7(1):10395.
  85. Hasegawa A, Samura O, Sato T, Matsuoka T, Ito Y, Kajiwara K, Aoki H, Inage Y, Kobayashi M, Okamoto A.
    Characterization of a small supernumerary marker chromosome derived from Xq28 and 14q11.2 detected prenatally.
    Case Rep Obstet Gynecol. 2018 May 7;2018:2875241.
  86. Tortora A, La Sala D, Lonardo F, Vitale M.
    Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.
    BMJ Case Rep. 2019 May 10;12(5). pii: e228662.
  87. Cetin Z, Mihci E, Keser I, Luleci G.
    Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13).

    Genet Couns. 2012;23(2):207-14.
  88. Wannenmacher B, Mitter D, Kießling F, Liehr T, Weise A, Siekmeyer M, Kiess W.
    A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.
    J Pediatr Endocrinol Metab. 2016 May 1;29(5):611-6. 
  89. Mikhail FM, McIlvried D, Holt RL, Messiaen L, Descartes MD, Carroll AJ.
    Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).
    Am J Med Genet A. 2006 Aug 1;140(15):1647-54.
  90. Lopez Pajares I, Delicado A, Cobos PV, Lledo G, Peralta A.
    Partial trisomy 14q.

    Hum Genet. 1979 Jan 25;46(2):243-7.
  91. Velissariou V, Sachinidi F, Christopoulou S, Florentin L, Liehr T, Efthymiadou A, Angelopoulou E, Chrysis D, Stefanou EG.
    Low-level trisomy 14 mosaicism: A carrier of an isochromosome 14 and a supernumerary marker chromosome 14.
    Cytogenet Genome Res. 2020;160(11-12):664-670.
  92. Liehr T, Williams HE, Ziegler M, Kankel S, Padutsch N, Al-Rikabi A.
    Small supernumerary marker chromosomes derived from chromosome 14 and/or 22.
    Mol Cytogenet. 2021 Feb 25;14(1):13.
  93. H Merhni, M Zerkaoui, A Natiq, A Sbiti, T Liehr, A Sefiani.
    Constitutional partial proximal trisomy 14q11.2 to 14q21: two new Moroccan cases and review of the literature.
    OBM Genetics 2019, 3: 1903085
  94. Karamysheva TV, Gayner TA, Muzyka VV, Orishchenko KE, Rubtsov NB.
    Two separate cases: Complex chromosomal abnormality involving three chromosomes and small supernumerary marker chromosome in patients with impaired reproductive function.
    Genes (Basel). 2020 Dec 17;11(12):1511.
  95. Garza-Mayén G, Ulloa-Avilés V, Villarroel CE, Navarrete-Meneses P, Lieberman-Hernández E, Abreu-González M, Márquez-Quiroz L, Azotla-Vilchis C, Cifuentes-Goches JC, Del Castillo-Ruiz V, Durán-McKinster C, Pérez-Vera P, Salas-Labadía C.
    UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
    Eur J Med Genet. 2021 Mar 18;64(5):104199.
  96. Verdoni A, Hu J, Surti U, Babcock M, Sheehan E, Clemens M, Drewes S, Walsh L, Clark R, Katari S, Sanfilippo J, Saller DN, Rajkovic A, Yatsenko SA.
    Reproductive outcomes in individuals with chromosomal reciprocal translocations.
    Genet Med. 2021 Sep;23(9):1753-1760.
  97. Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A.
    Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
    Am J Med Genet A. 2016 Sep;170(9):2365-71.
  98. Delaroche I, Bruni L, Giannotti A, Giampaolo R, Aebischer ML.
    Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter).
    Helv Paediatr Acta. 1984 May;39(2):161-6.
  99. Bose D, Krishnamurthy V, Venkatesh KS, Aiyaz M, Shetty M, Rao SN, Kutty AV.
    Molecular delineation of partial trisomy 14q and partial trisomy 12p in a patient with dysmorphic fatures, heart defect and developmental delay.
    Cytogenet Genome Res. 2015;145(1):14-8.
  100. Yeatman GW, Riccardi VM.
    Partial trisomy of chromosome 14: (+14q-).
    Birth Defects Orig Artic Ser. 1976;12(5):119-24.
  101. Lo Curto F, Maraschio P, Milanesi P, Severi F, Ugazio AC, Zuffardi O.
    The syndrome of partial trisomy 14q.
    Eur J Pediatr. 1976 Nov 3;123(4):237-41.
  102. Soudek D, Hunter P, O'Shaughnessy S, Simpson NE, Soudek V.
    Familial translocation t(8;14) with a case of tertiary trisomy, +14q-.
    Birth Defects Orig Artic Ser. 1978;14(6C):309-15.
  103. Kovacs G, Mihai C.
    Tertiary trisomy 14q--, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22).
    Hum Genet. 1979 Jun 19;49(2):175-8.
  104. Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P.
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
    Eur J Hum Genet. 2011 Jan;19(1):102-7.
  105. Smith A, den Dulk G, Elliott G.
    A severely retarded 18-year-old boy with tertiary partial trisomy 14.
    J Med Genet. 1980 Jun;17(3):230-2.
  106. Angle B, Yen F, Cole CW.
    Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes.
    Am J Med Genet. 1999 May 21;84(2):132-6.
  107. Wang J, Lichty A, Johnson J, Couick C, Moore MA, Christensen B, Howard K, Lee JA, DuPont BR, Clarkson L, Hilton BA.
    Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.
    Chromosome Res. 2023 Jan 19;31(1):1.