tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- sSMC 4 -

REFERENCES

 

     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 unpublished data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. Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U, von Eggeling F, Liehr T.
    First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.
    Am J Med Genet. 2003 Jan 1;116A(1):26-30.
  3. 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.
  4. 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.
  5. 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.
  6. Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T.
    Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.
    Hum Genet. 1997 Dec;101(3):255-262.
  7. Blennow E, Annerén G, Bui TH, Berggren E, Asadi E, Nordenskjöld M.
    Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).
    Am J Hum Genet. 1993 Aug;53(2):433-442.
  8. 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.
  9. Vermeesch JR, Petit P, Dutra A, Schröck E, Ried T, Fryns JP.
    A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth.
    Genet Couns. 1999;10(2):195-196.
  10. Fryns JP, van Herck G, van den Berghe H.
    Mosaic supernumerary small ring chromosome.
    J Genet Hum. 1981 Jun;29(2):151-154.
  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. Fang YY, Eyre HJ, Bohlander SK, Estop A, McPherson E, Trager T, Riess O, Callen DF.
    Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.
    Am J Hum Genet. 1995 Nov;57(5):1137-1142.
  14. 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.
  15. 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.
  16. Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM.
    Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
    Genet Med. 1999 Jul-Aug;1(5):213-218.
  17. Warburton PC, Barwell J, Splitt M, Maxwell D, Bint S, Ogilvie CM.
    Class II neocentromeres: a putative common neocentromere site in band 4q21.2.
    Eur J Hum Genet. 2003 Oct;11(10):749-753.
  18. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  19. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  20. Bonnet C, Zix C, Brochet K, Duc M, Philippe C, Gregoire M-J, Jonveaux P.
    Characterization of mosaic supernumerary marker chromosomes by array CGH: segmental aneusomy for proximal 4q in a child with moderate mental retardation and postnatal overgrowth .
    Chromosome Res 2005; 13 suppl. 1, 69 (Abstractnr. 1.127-P).
  21. 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.
  22. May LF, Works C, Lese Martin DH, Ledbetter DH.
    Marker chromosomes: new insights and worries.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p157 (Abstractno. 773).
  23. Bonnet C, Zix C, Gregoire MJ, Brochet K, Duc M, Rousselet F, Philippe C, Jonveaux P.
    Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.
    Am J Med Genet A. 2006 Feb 1;140(3):233-237.
  24. Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung S Wai, Cai W Wen, Eggeling F von, Mazurczak T, Bocian E, Liehr T.
    Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
    J Appl Genet. 2007;48(2):167-175.
  25. 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.
  26. 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.
  27. 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.
  28. Shashi V, Berry MN, Santos C, Pettenati MJ.
    Partial duplication of 4q12q13 leads to a mild phenotype.
    Am J Med Genet. 1999 Sep 3;86(1):51-53.
  29. Mattei MG, Mattei JF, Bernard R, Giraud F.
    Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation.
    Hum Genet. 1979 Sep 2;51(1):55-61.
  30. Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, Verma RS.
    Clinical manifestations of trisomy 4p syndrome.
    Eur J Pediatr. 1995 Jun;154(6):425-431.
  31. Pappas JG, Havens G, Bhatt J, Babu A.
    Familial chromosomal mosaicism for a small ring originated from chromosome 4.
    Cytogenet Cell Genet 1999, 85(1-2):160 (Abstractno: P674).
  32. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 199-202.
  33. 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.
  34. Liehr T, Bartels I, Zoll B, Ewers E, Mrasek K, Kosyakova N, Merkas M, Hamid AB, von Eggeling F, Posorski N, Weise A.
    Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p?
    Cytogenet Genome Res. 2011, 132(1-2):121-123.
  35. 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.
  36. Li P, Pomianowski P, Dimaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ.
    Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.
    Am J Med Genet A. 2011 Jul;155A(7):1605-1615.
  37. Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Wu PC, Chen WL, Chen LF, Pan CW, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4.
    Taiwan J Obstet Gynecol. 2011 Jun;50(2):188-195.
  38. 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.
  39. Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gérard M.
    Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
    Am J Med Genet A. 2012 Sep;158A(9):2277-2282.
  40. 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.
  41. 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.
  42. 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.
  43. 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.
  44. Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T.
    Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
    Eur J Hum Genet. 2015 May;23(5):663-671.
  45. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.