ChromosOmics - Database

Icon by Leon Liehr                  

                                                     - REFERENCES for #14/22 -                                                              

      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 unpublished data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. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Xu J, Fong CT, Cedrone E, Sullivan J, Wang N.
    Prenatal identification of de novo marker chromosomes using micro-FISH approach.
    Clin Genet. 1998 Jun;53(6):490-496.
  7. Plattner R, Heerema NA, Patil SR, Howard-Peebles PN, Palmer CG.
    Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization.
    Hum Genet. 1991 Jul;87(3):290-296.
  8. 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.
  9. 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.
  10. Hastings RJ, Nisbet DL, Waters K, Spencer T, Chitty LS.
    Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.
    Prenat Diagn. 1999 May;19(5):436-445.
  11. 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.
  12. 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.
  13. 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.
  14. Calabrese G, Stuppia L, Mingarelli R, Guanciali Franchi P, Peila R, Morizio E, Antonucci A, Palka G.
    Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis.
    Ann Genet. 1994;37(3):135-138.
  15. 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.
  16. Felbor U, Knötgen N, Schams G, Buwe A, Steinlein C, Schmid M.
    Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation.
    Cytogenet Genome Res. 2004;106(1):55-60.
  17. Shim SH, Pan A, Huang XL, Tonk VS, Varma SK, Milunsky JM, Wyandt HE.
    FISH Variants with D15Z1.
    J Assoc Genet Technol. 2003;29(4):146-151.
  18. Reish O, Gobazov R, Roseblat M, Libman V, Mashevich M
    Prenatally Detected Extra Structurally Abnormal Chromosome: The Dilemma of Genetic Counseling.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 183  (Abstractnumber 924).
  19. 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.
  20. Sanz R, Sousa A, Gonzáles.
    Identification of the chromosomal origin of small supernumerary marker chromosomes and its phenotypic effect.
    Chromosome Res 2005; 13 suppl. 1, 69 (Abstractnr 1.126-P)
  21. 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.
  22. 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.
  23. 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.
  24. Mendez C, Martinez MC, Rodrigo L, Rubio C, Molla M, Landeras J.
    Reproductive options in carrier of satellited supernumerary  marker chromosomes (SMCs).
    Chr Res 2007, Vol 15 Suppl. 1, p 239 (Abstractnr. 10.14-P - information from poster)
  25. 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)
  26. Sayar, Toksoy G, Turkover B, Yardimci T, Sahinoglu Z.
    A prenatal case of a 46,XX[44]/48,XX,+2mar[11].ish(D14Z1/D22z1+,wcp+)mat karyotype, with marker chromosome effects on the phenotypes in three generations.
    Chr Res 2007, Vol 15 Suppl. 1, p 122 (Abstractnr. 1.229-P)
  27. 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).
  28. Simovich MJ, Kang SHL, Patel A, Pursley A, Chinault AC, Lupski JR, Beaudet AL, Van den Veyer IB, Cheung SW.
    Prenatal detection and characterization of supernumerary marker chromosomes by array-CGH.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p458 (Abstractno. 2423 - information directly from poster).
  29. 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.
  30. 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.
  31. 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.
  32. Jardim A, Mascarenhas A, Pinto M, Matoso E, Melo J, Maia S, Branco M, Carreira I.
    A prenatal case with aneuploidy, duplöication and a SMC: do bad things really come in threes?
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S227 (Abstractnr. 10.P49 - information from poster).
  33. 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.
  34. 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.
  35. 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.
  36. 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.
  37. 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.
  38. Malvestiti F, De Toffol S, Grimi B, Chinetti S, Marcato L, Agrati C, Di Meco AM, Frascoli G, Trotta A, Malvestiti B, Ruggeri A, Dulcetti F, Maggi F, Simoni G, Grati FR.
    De novo small supernumerary marker chromosomes detected on 143000 consecutive prenatal diagnoses: chromosomal distribution, frequencies and characterization combining molecular-cytogenetics approaches.
    Prenat Diagn. 2014 May;34(5):460-468.
  39. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  40. 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.
  41. 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.
  42. Sun M, Zhang H, Xi Q, Li L, Hu X, Zhang H, Liu R.
    Molecular characterization of small supernumerary marker chromosomes derived from chromosome 14/22 detected in adult women with fertility problems: Three case reports and literature review.
    Medicine (Baltimore). 2020 Oct 2;99(40):e22532.
  43. 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.
  44. 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.
  45. Chen CP, Chen M, Ma GC, Chang SP, Chern SR, Chen SW, Wu FT, Chen WL, Lee MS, Chen YY, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of a familial small supernumerary marker chromosome derived from the acrocentric chromosome 14/22.
    Taiwan J Obstet Gynecol. 2022 Mar;61(2):364-367.