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- sSMC 3 -

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 unpublished data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. Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R.
    A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).
    Clin Genet. 1992 Aug;42(2):84-90.
  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. 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.
  5. 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.
  6. Levy B, Jalal SM, Dunn TM, Warburton PE, Tonk VS, Hirschhorn K, Lockhart LH, Hughes T, Velagaleti GV.
    Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay.
    Am J Med Genet. 2002 Mar 15;108(3):198-204.
  7. Müller-Navia J, Nebel A, Schleiermacher E.
    Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis.
    Hum Genet. 1995 Dec;96(6):661-667.
  8. Müller-Navia J, Nebel A, Oehler D, Theile U, Zabel B, Schleiermacher E.
    Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities.
    Prenat Diagn. 1996 Oct;16(10):915-922.
  9. Rothemund H, Greenberg CR, Dawson AJ.
    Mosaic supernumerary marker chromosome identified as a der(3) by FISH.
    Clin Genet. 1998 Dec;54(6):526-527.
  10. 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.
  11. 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.
  12. Portnoi MF, Boutchnei S, Bouscarat F, Morlier G, Nizard S, Dersarkissian H, Crickx B, Nouchy M, Taillemite JL, Belaich S.
    Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q.
    J Med Genet. 1999 Mar;36(3):246-250.
  13. Cockwell AE, Gibbons B, Moore IE, Crolla JA.
    An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations.
    J Med Genet. 2000 Oct;37(10):807-810.
  14. Barbi G, Spaich C, Adolph S, Kehrer-Sawatzki H.
    Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl.
    J Med Genet. 2003 Mar;40(3):e27.
  15. Wandall A, Tranebjaerg L, Tommerup N.
    A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores.
    Chromosoma. 1998 Dec;107(6-7):359-365.
  16. Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S.
    Analphoid 3qter markers.
    Am J Med Genet. 2000 Sep 11;94(2):113-119.
  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. Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Lagana C, Stuppia L, Sabatino G, Palka G.
    Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
    Am J Med Genet. 2004 Jun 1;127A(2):144-148.
  19. Liehr T, Hickmann G, Kozlowski P, Claussen U, Starke H.
    Molecular-cytogenetic characterization of the origin and presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs).
    Chromosome Res 2004; 12:239-244.
  20. Yu J, Qi Z, Thompson K, Modaff P, Wells W, Meisner L, Pauli R
    Characterization of a rare neocentric marker chromosome using chromosome microdissection
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 192 (Abstractnumber 982).
  21. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  22. Sullivan CM, Mountford ST, Emmerson JM, Ellis RJ, Turmbull C, Waters KS.
    A mosaic karyotype with an additional inv dup(3)(qter->q26.2::q26.2->qter), containing a neocentromere, detected in a skin biopsy from a girl with skeletal abnormalities, abnormal skin pigmentation and developmental delay.
    J Med Genet. 2005; 42Suppl.1: S71 (Abstractnumber 2.23)
  23. Marchal J, Gerlach A, Ebell W, Neitzel H, Tönnies H.
    Identification and molecular cytogenetic characterization of a supernumerary neocentric derivative chromosome 3 in bone marrow cells of a Fanconi anemia patient. .
    Medgen 2006; 18: 53-54 (Abstractnumber P036)
  24. Italiano A, Attias R, Aurias A, Perot G, Burel-Vandenbos F, Otto J, Venissac N, Pedeutour F.
    Molecular cytogenetic characterization of a metastatic lung sarcomatoid carcinoma: 9p23 neocentromere and 9p23 approximately p24 amplification including JAK2 and JMJD2C.
    Cancer Genet Cytogenet. 2006 Jun;167(2):122-130.
  25. Batanian JR, Zenhenpan K, Frater J, Gale G.
    Co-existance of neocentromeric marker 3q and trisomy 3 in two different tissues of a 10 year old boy having B-cell lymphoma: support of a gene dosage effect hypothesis. 
    Europ J Hum Genet 2005; 13 Suppl. 1:188 (Abstractno. P0504)
  26. 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.
  27. Batanian JR, Bernreuter K, Koslosky L, Frater JL.
    Coexistence of neocentromeric marker 3q and trisomy 3 in two different tissues in a 3-year-old boy with peripheral T-cell lymphoma: support for a gene dosage effect hypothesis.
    Cancer Genet Cytogenet. 2006 Oct 15;170(2):152-157.
  28. Lee MW, Brothman AR, Abdul-Rahman OA.
    Pure Trisomy 3q29 presenting as VATER association.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p133 (Abstractno.529 - information directly from poster).
  29. 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).
  30. Kosaki K, Izumi K, Aramaki M, Kosaki R.
    Neocentromere marker chromosome 3q mimicking dup(3q) syndrome phenoytpe.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p329 (Abstractno. 1671 - information directly from poster).
  31. 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.
  32. Ventura M, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D'Addabbo P, Wandall A, Bjorck E, de Jong PJ, She X, Eichler EE, Archidiacono N, Rocchi M.
    Recurrent sites for new centromere seeding.
    Genome Res. 2004 Sep;14(9):1696-1703.
  33. Kotzot D, Krüger C, Braun-Quentin C.
    De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
    Clin Genet. 1996 Aug;50(2):96-98.
  34. Oliveira G, Matoso E, Vicente A, Ribeiro P, Marques C, Ataíde A, Miguel T, Saraiva J, Carreira I.
    Partial tetrasomy of chromosome 3q and mosaicism in a child with autism.
    J Autism Dev Disord. 2003 Apr;33(2):177-185.
  35. Ounap K, Ilus T, Bartsch O.
    A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
    Am J Med Genet A. 2005 May 1;134(4):434-438.
  36. 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.
  37. Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K.
    Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.
    Am J Med Genet A. 2008 Aug 1;146A(15):1967-1971.
  38. Zawada M, Jarmuz M, Wojda A, Kolowska J, Mazurek M, Latos-Bielenska A.
    A cytogenetic and FISH studies of the autosome marker chromosomes.
    Cytogenet Cell Genet 77:68 (Abstractno. P60).
  39. Murthy SK, Malhotra AK, Jacob PS, Naveed S, Al-Rowaished EE, Mani S, Padariyakam S, Pramathan R, Nath R, Al-Ali MT, Al-Gazali L.
    Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter)de novo in a child with dysmorphic features and streaky pigmentation : case report.
    Mol Cytogenet. 2008 Aug 14;1(1):19.
  40. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 129-130.
  41. Watson MS, Dowton SB, Rohrbaugh J.
    Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring.
    Am J Med Genet. 1990 Jun;36(2):172-174.
  42. Srebniak M, Noomen P, dos Santos P, Halley D, van de Graaf R, Govaerts L, Wouters C, Galjaard RJ, Van Opstal D.
    An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation.
    Prenat Diagn. 2008 Oct;28(10):967-970.
  43. 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.
  44. 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.
  45. 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.
  46. 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.
  47. Čiuladaitė Z, Matulevičienė A, Kasnauskienė J, Aleksiūnienė B, Kučinskas V.
    Small supernumerary marker chromosome derived from chromosome 3 in patient with severe psychomotor developmental delay and dysmorphism.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 150 (Abstractnr. P03.083).
  48. Steiner CE, Cunha KS, Simioni M, Vieira TAP, Gil-da-Silva-Lopes VL, Puzzi MB.
    Analphoid supernumerary marker chromosome characterized by high resolution array: a de novo 3q26.32-q29 duplication in a child with pigmentary mosaicism of Ito.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 971T.
  49. 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.
  50. 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.
  51. Hamid AB, Kreskowski K, Weise A, Kosayakova N, Mrasek K, Voigt M, Guilherme RS, Wagner R, Hardekopf D, Pekova S, Karamysheva T, Liehr T, Klein E.
    How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set.
    J Appl Genet. 2012 Aug;53(3):259-269.
  52. 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.
  53. 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.
  54. 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)
  55. Sheth FJ, Liehr T, Kumari P, Akinde R, Sheth HJ, Sheth JJ.
    Chromosomal abnormalities in couples with repeated fetal loss: an Indian retrospective study.
    Indian J Hum Genet 2013, 19: 415-422.
  56. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  57. Cunha KS, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Puzzi MB, Steiner CE.
    Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito.
    Genet Mol Biol. 2016 Mar;39(1):35-9.