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- sSMC 10 -

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 unpublished data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. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.
    Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
    Am J Med Genet. 2001 Mar 15;99(3):223-233.
  3. Blennow E, Tillberg E.
    Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
    J Med Genet. 1996 May;33(5):399-402.
  4. Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S.
    Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.
    Hum Mol Genet. 1997 Aug;6(8):1195-1204.
  5. Levy B, Papenhausen P, Tepperberg J, Dunn T, Fallet S, Magid M, Kardon N, Hirschhorn K, Warburton P.  
    Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome.
    Cytogenet Cell Genet. 2000;91(1-4):165-170.
  6. 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.
  7. du Sart D, Cancilla MR, Earle E, Mao JI, Saffery R, Tainton KM, Kalitsis P, Martyn J, Barry AE, Choo KH.
    A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA.
    Nat Genet. 1997 Jun;16(2):144-153.
  8. Barry AE, Bateman M, Howman EV, Cancilla MR, Tainton KM, Irvine DV, Saffery R, Choo KH.
    The 10q25 neocentromere and its inactive progenitor have identical primary nucleotide sequence: further evidence for epigenetic modification.
    Genome Res. 2000 Jun;10(6):832-838.
  9. Barry AE, Howman EV, Cancilla MR, Saffery R, Choo KH.
    Sequence analysis of an 80 kb human neocentromere.
    Hum Mol Genet. 1999 Feb;8(2):217-227.
  10. Saffery R, Wong LH, Irvine DV, Bateman MA, Griffiths B, Cutts SM, Cancilla MR, Cendron AC, Stafford AJ, Choo KH.
    Construction of neocentromere-based human minichromosomes by telomere-associated chromosomal truncation.
    Proc Natl Acad Sci U S A. 2001 May 8;98(10):5705-5710.
  11. Cancilla MR, Tainton KM, Barry AE, Larionov V, Kouprina N, Resnick MA, Sart DD, Choo KH.
    Direct cloning of human 10q25 neocentromere DNA using transformation-associated recombination (TAR) in yeast.
    Genomics. 1998 Feb 1;47(3):399-404.
  12. Koch J.
    Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNA.
    Hum Mol Genet. 2000 Jan 22;9(2):149-154.
  13. Maggert KA, Karpen GH.
    Acquisition and metastability of centromere identity and function: sequence analysis of a human neocentromere.
    Genome Res. 2000 Jun;10(6):725-728.
  14. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  15. Brown W, Tyler-Smith C.
    Centromere activation.
    Trends Genet. 1995 Sep;11(9):337-339.
  16. Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A.
    Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.
    Prenat Diagn. 2002 May;22(5):418-421. Erratum in: Prenat Diagn 2002 Nov;22(11):1056.
  17. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  18. May LF, Pressley D, Johnson D, Cooper S, Wong A, Lese Martin C, Ledbetter DH.
    Development and application of a pericentromeric clone set for exploring genomic instability and architecture.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 191 (Abstractnumber 976). - (Info directly from poster)
  19. Trimborn M, Grueters A, Neitzel H, Tönnies H.
    First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.
    Cytogenet Genome Res 2005; 108(4):178-282.
  20. Snyder FF, Lin CC, Rudd NL, Shearer JE, Heikkila EM, Hoo JJ.
    A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase.
    Hum Genet. 1984;67(2):187-189.
  21. Chen Z, Meloni-Ehrig A, Palumbos JC, Guan XY, Carroll KL, Dent KM, Carey JC.
    Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics.
    Am J Med Genet. 2001 Sep 1;102(4):379-382.
  22. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  23. 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.
  24. Benzacken B, Lapierre JM, Siffroi JP, Chalvon A, Tachdjian G.
    Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH).
    Clin Genet. 1998 Oct;54(4):334-340.
  25. 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).
  26. 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.
  27. Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ.
    Further delineation of the partial proximal trisomy 10q syndrome.
    J Med Genet. 1995 Dec;32(12):968-971.
  28. Devriendt K, Matthijs G, Holvoet M, Schoenmakers E, Fryns JP.
    Triplication of distal chromosome 10q.
    J Med Genet. 1999 Mar;36(3):242-245.
  29. 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.
  30. Miolo GM, Garani GP, Aiello V, Bonfatti A, Gruppioni R, Tamisari R, Buldrini B, Occhiuto E, Sensi A, Calzolari E.
    Duplication of the proximal arm of chromosome 10: contribution to the delineation of a syndrome.
    Annales de Genetique 2003, 46(2-3): 249 (abstract no 7.61).
  31. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 462-467.
  32. Fryns JP, Deroover J, Haegeman J, Van den Berghe H.
    Partial duplication of the short arm of chromosome 10. Karyotype: 46,XX,dup(10p)(pter to p12::p12::p12 to qter).
    Hum Genet. 1979 Mar 12;47(2):217-220.
  33. Harris DJ.
    Partial 10p trisomy..
    Am J Hum Genet 1985; 37: A57.
  34. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 468-469
  35. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 474-480.
  36. 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.
  37. Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ES.
    Prenatal diagnosis of extrastructurally abnormal chromosomes: clinical experience and literature review.
    J Chin Med Assoc. 2009 Jan;72(1):29-33.
  38. Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A.
    10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.
    Cytogenet Genome Res 2009;124:102-105.
  39. Sung PL, Chang SP, Wen KC, Chang CM, Yang MJ, Chen LC, Chao KC, Huang CY, Li YC, Lin CC.
    Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype.
    Am J Med Genet A. 2009 Nov 16;149A(12):2768-2774.
  40. 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.
  41. Manolakos E, Vetro A, Kefalas K, Rapti SM, Louizou E, Garas A, Kitsos G, Vasileiadis L, Tsoplou P, Eleftheriades M, Peitsidis P, Orru S, Liehr T, Petersen MB, Thomaidis L.
    The use of array-CGH in a cohort of Greek children with developmental delay.
    Mol Cytogenet. 2010 Nov 9;3:22.
  42. Ou J, Wang W, Liehr T, Klein E, Hamid AB, Wang F, Duan C, Li H.
    Characterization of three small supernumerary marker chromosomes (sSMC) in humans.
    J Matern Fetal Neonatal Med. 2013 Jan;26(1):106-108.
  43. Lozić B, Culić V, Lasan R, Tomasović M, Samija RK, Zemunik T.
    Complete trisomy 10p resulting from an extra stable telocentric chromosome.
    Am J Med Genet A. 2012 Jul;158A(7):1778-1781.
  44. 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.
  45. 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.
  46. 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.
  47. Ou J, Wang W, Duan CY, Fu WY, Liu YL, Sun J, Zhong HL, Li H.
    [Identification of human small supernumerary marker chromosomes and discussion of its research value].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):91-94.
  48. Desch L, Marle N, Mosca-Boidron AL, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, El Chehadeh S, Callier P.
    6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
    Mol Cytogenet. 2015 Jun 25;8:42.
  49. Santacroce R, Trunzo R, Leccese A, Pansini A, Gentile M, Margaglione M.
    The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.
    Syst Biol Reprod Med
    . 2015 2015;61(6):398-402.
  50. Barranco L, Costa M, Lloveras E, Ordóñez E, Maiz N, Hernando C, Villa O, Cirigliano V, Plaja A.
    Three-year follow-up of a prenatally ascertained apparently non-mosaic sSMC(10): delineation of a non-critical region.
    Cytogenet Genome Res. 2015;147(4):209-11.