ChromosOmics - Database

Icon by Leon Liehr                  

                                                     - REFERENCES for #13/21 -                                                              

      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 unpublished data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. Bartsch O, Schwinger E.
    A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics.
    Clin Genet. 1991 Jul;40(1):47-56.
  6. Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA.
    Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.
    Am J Hum Genet. 1991 Apr;48(4):769-782. Erratum in: Am J Hum Genet 1991 Aug;49(2):503.
  7. 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.
  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. 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.
  10. 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.
  11. Viersbach R, Schwanitz G, Nothen MM.
    Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes.
    Hum Genet. 1994 Jun;93(6):663-667.
  12. Cooper LF, Coss CA, Jabs EW.
    Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), + mar by molecular cytogenetics.
    Clin Genet. 1992 Dec;42(6):323-325.
  13. Mules EH, Stamberg J, Jabs EW, Leonard CO.
    Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites.
    Clin Genet. 1983 May;23(5):380-385.
  14. 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.
  15. 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.
  16. 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.
  17. Miller WA, Thayer BA, McLaughlin C, et al.
    Chromosomal origin of de novo marker chromosomes identified prenatally
    Am J Hum Genet. 1992, 51 (Suppl):A1030.
  18. 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.
  19. 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.
  20. 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.
  21. Hou JW, Wang TR.
    Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.
    Eur J Pediatr. 1998 Feb;157(2):122-127.
  22. Minelli E, Müller-Navia J, Mazzola D, Mny P, Bronz L, Uhr M.
    Characterization of a marker chromosome with FISH and microdissection in prenatal diagnosis.
    Annales de Genetique 2003, 46(2-3): 325 (abstract no 13.31).
  23. 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.
  24. Voullaire LE, Slater HR, Petrovic V, Choo KH.
    A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?
    Am J Hum Genet. 1993 Jun;52(6):1153-1163.
  25. Hou JW, Liu CH, Wang TR.
    Molecular cytogenetic studies of children with marker chromosomes.
    J Formos Med Assoc. 1994 Mar;93(3):205-209.
  26. Vorsanova SG, Yurov YB, Soloviev IV, Demidova IA, Malet P.
    Rapid identification of marker chromosomes by in situ hybridization under different stringency conditions.
    Anal Cell Pathol. 1994 Oct;7(3):251-258.
  27. 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.
  28. 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.
  29. Bocian E, Jakubow-Durska K, Mazurczak T.
    Results of 1043 prenatal cytogenetic studies: retrospective study in the context of applicability of interphase FISH in prenatal diagnosis
    Ginekol Pol. 2001 Jun;72(6):449-455. Polish.
  30. 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.
  31. 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. 
  32. Mabboux P, Brisset S, Aboura A, Pineau D, Koubi V, Joannidis S, Labrune P, Tachdjian G.
    Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation.
    Am J Med Genet A. 2007 Mar 1;143A(7):727-733.
  33. Cockwell AE, Jacobs PA, Crolla JA.
    Distribution of the D15Z1 copy number polymorphism.
    Eur J Hum Genet. 2007;15:441-445.
  34. Kozlowski P, Grund I, Hickmann G, Stressig R, Knippel AJ.
    Quantitative fluorescent polymerase chain reaction versus cytogenetics: risk-related indication and clinical implication of nondetected chromosomal disorders.
    Fetal Diagn Ther. 2006;21(2):217-223.
  35. Sanz, Sousa A, Gonzalz S.
    Small supernumerary  marker chromosomes: cytogenetic  identification, molecular characterization and correlation with the phenotype.
    Chr Res 2007, Vol 15 Suppl. 1, p 98 (Abstractnr. 1.172-P)
  36. Rodriguez L, Liehr T, Mrasek K, Mansilla E, Martinez-Fernandez ML, Garcia A, Martinez-Frias ML.
    Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review.
    Am J Med Genet A. 2007 Oct 15;143A(22):2727-2732.
  37. Li YC, Hsieh LJ, Chen CP, Tsai FJ, Lin CC.
    Identification of marker chromosomes using FISH-based technology and DNA polymorphic markers.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p320 (Abstractno. 1617 - information directly from poster).
  38. 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.
  39. 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.
  40. Marchina E, Imperadori L, Speziani M, Omodei U, Tombesi S, Barlati S.
    Chromosome abnormalities and Yq microdeletions in infertile italian couples referred for assisted reproductive technique.
    Sex Dev. 2007;1(6):347-352.
  41. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T.
    Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
    Mol Cytogenet. 2008 Apr 15;1(1):6.
  42. 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)
  43. 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).
  44. Polihronis S, Wright D.
    Four year retroperspective review on mosaic prenatal samples.
    Chr Res 2009, 17(Supl. 1):S230 (Abstractno: 13.56-P).
  45. 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.
  46. 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.
  47. 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.
  48. 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.
  49. Alfonsi M, Palka C, Morizio E, Soranno A, Guanciali-Franchi P, Palka G, Calabrese G.
    Prenatal diagnosis of a supernumerary marker chromosome derived from chromosome 18: an example of usefulness of array-CGH.
    Chromosome Res 2013, 21:S144 (Abstractnr. 13.P19)
  50. 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)
  51. Plaja A, Lloveras E, Martinez-Bouzas C, Barreña B, Campo MD, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, Català V, Tejada MI.
    Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration.
    Am J Med Genet A. 2013 Sep;161(9):2363-2368.
  52. 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.
  53. 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.
  54. 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.
  55. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  56. Sheth F, Rahman M, Liehr T, Desai M, Patel B, Modi C, Trivedi S, Sheth J.
    Prenatal screening of cytogenetic anomalies - a Western Indian experience.
    BMC Pregnancy Childbirth. 2015 Apr 12;15(1):90.
  57. Kirkpatrick G, Ren H, Liehr T, Chow V, Ma S.
    Meiotic and sperm aneuploidy studies in three carriers of Robertsonian translocations and small supernumerary marker chromosomes.
    Fertil Steril
    . 2015 May;103(5):1162-1169.e7.
  58. 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.
  59. Marchina E, Forti M, Tonelli M, Maccarini S, Malvestiti F, Piantoni C, Filippini E, Fazzi E, Borsani G.
    Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.
    Mol Cytogenet. 2021 Jan 20;14(1):6.
  60. 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.