ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #18 -                                                              

      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 unpublished data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. Liehr T, Nietzel A, Starke H, Heller A, Weise A, Kuechler A, Senger G, Ebner S, T Martin, Stumm M, Wegner R, Tönnies H, Hoppe C, Claussen U, von Eggeling F.
    Characterization of small marker chromosomes (SMC) by recently developed molecular cytogenetic approaches.
    J Ass Genet Techn 2003, 29:5-10.
  3. 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.
  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. Blennow E, Nielsen KB.
    Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84.
    Clin Genet. 1991 Jun;39(6):429-433.
  7. Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D, Haan EA
    The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.
    Am J Hum Genet. 1990 Sep;47(3):493-498.
  8. 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.
  9. 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.
  10. Uchida IA, Wang HC, Laxdal OE, Zaleski WA, Duncan BP.
    Partial trisomy-deficiency syndrome resulting from a areciprocal translocation in a large kindred.
    Cytogenetics 1964 3: 81-96.
  11. Verschraegen-Spae MR, van Roy N, de Perdigo A, de Paepe A, Speleman F.
    Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis.
    Prenat Diagn. 1993 May;13(5):385-394.
  12. 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.
  13. Li MM, Howard-Peebles PN, Killos LD, Fallon L, Listgarten E, Stanley WS.
    Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.
    Prenat Diagn. 2000 Feb;20(2):138-143.
  14. Haddad BR, Schrock E, Meck J, Cowan J, Young H, Ferguson-Smith MA, du Manoir S, Ried T.
    Identification of de novo chromosomal markers and derivatives by spectral karyotyping.
    Hum Genet. 1998 Nov;103(5):619-625.
  15. Ohta T, Tohma T, Soejima H, Fukushima Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N.
    The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.
    Hum Genet. 1993 Aug;92(1):1-5.
  16. Koch J, Fischer H, Askholm H, Hindkjaer J, Pedersen S, Kolvraa S, Bolund L.
    Identification of a supernumerary der(18) chromosome by a rational strategy for the cytogenetic typing of small marker chromosomes with chromosome-specific DNA probes.
    Clin Genet. 1993 Apr;43(4):200-203.
  17. Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL, Mattei JF.
    DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome.
    Hum Genet. 1985;69(3):268-271.
  18. 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.
  19. Rivera H, Moller M, Hernandez A, Enriquez-Guerra MA, Arreola R, Cantu JM.
    Tetrasomy 18p: a distinctive syndrome.
    Ann Genet. 1984;27(3):187-189.
  20. 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.
  21. 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.
  22. 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.
  23. Felbor U, Rutschow D, Haaf T, Schmid M.
    Centromeric association of chromosome 16- and 18-derived microchromosomes.
    Hum Genet. 2002 Jul;111(1):16-25.
  24. Yaron Y, Carmon E, Goldstein M, Voskoboinik N, Ochshorn Y, Gelman-Kohan Z, Orr-Urtreger A.
    The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs).
    Prenat Diagn. 2003 Jan;23(1):74-79.
  25. Levy B, Dunn TM, Kaffe S, Kardon N, Hirschhorn K.
    Clinical applications of comparative genomic hybridization.
    Genet Med. 1998 Nov-Dec;1(1):4-12.
  26. Stankiewicz P, Brozek I, Helias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardas I, Wirth J, Mazurczak T, Limon J.
    Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
    Am J Med Genet. 2001 Jul 1;101(3):226-239.
  27. Röthlisberger B, Chrzanowska K, Balmer D, Riegel M, Schinzel A.
    A supernumerary marker chromosome originating from two different regions of chromosome 18.
    J Med Genet. 2000 Feb;37(2):121-124.
  28. Engelen JJ, Loots WJ, Motoh PC, Moog U, Hamers GJ, Geraedts JP.
    Marker chromosome identification by micro-FISH.
    Clin Genet. 1996 May;49(5):242-248. Erratum in: Clin Genet 1996 Jun;49(6);333-334.
  29. Jenderny J, Caliebe A, Beyer C, Grote W.
    Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
    J Med Genet. 1993 Nov;30(11):964-965.
  30. Hindkjaer J, Brandt CA, Stromkjaer H, Koch J, Kolvraa S, Bolund L.
    Primed IN situ labelling (PRINS) as a rational procedure for identification of marker chromosomes using a panel of primers differentially tagging the human chromosomes.
    Clin Genet. 1996 Dec;50(6):437-441.
  31. Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Lundsteen C, Philip J.
    Comparative genomic hybridization in clinical cytogenetics.
    Am J Hum Genet. 1995 Nov;57(5):1211-1220.
  32. Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, Baccicchetti C, Holler A, Castellan C, Braun-Quentin C, Pfeiffer RA, Schinzel A.
    Isochromosome 18p results from maternal meiosis II nondisjunction.
    Eur J Hum Genet. 1996;4(3):168-174.
  33. Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Rothlisberger B, Schinzel A.
    Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.
    Am J Med Genet. 2002 Nov 15;113(1):101-104.
  34. Boyle J, Sangha K, Dill F, Robinson WP, Yong SL.
    Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters.
    Am J Med Genet. 2001 Jun 1;101(1):65-69.
  35. Abeliovich D, Dagan J, Levy A, Steinberg A, Zlotogora J.
    Isochromosome 18p in a mother and her child.
    Am J Med Genet. 1993 Jun 1;46(4):392-393.
  36. Göcke H, Muradow I, Zerres K, Hansmann M.
    Mosaicism of isochromosome 18p. Cytogenetic and morphological findings in a male fetus at 21 weeks.
    Prenat Diagn. 1986 Mar-Apr;6(2):151-157.
  37. Takeda K, Okamura T, Hasegawa T.
    Sibs with tetrasomy 18p born to a mother with trisomy 18p.
    J Med Genet. 1989 Mar;26(3):195-197.
  38. Froland A, Holst G, Terslev E
    Multiple anomalies associated with an extra small autosome.
    Cytogenetics 1963; 2:99-106.
  39. Taylor KM, Wolfinger HL, Brown MG, Chadwick DL.
    Origin of a small metacentric chromosome: familial and cytogenic evidence.
    Clin Genet. 1975 Nov;8(5):364-369.
  40. Eggermann T, Engels H, Moskalonek B, Nothen MM, Muller-Navia J, Schleiermacher E, Schwanitz G, Stengel-Rutkowski S.
    Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.
    Hum Genet. 1996 May;97(5):568-572.
  41. Irwin DL, Bryan JL, Chan FY, Matthews PL, Healey SC, Peters M, Findlay I.
    Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques.
    Genet Test. 2003 Spring;7(1):1-6.
  42. Graf MD, Gill P, Krew M, Schwartz S.
    Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescence in situ hybridization (FISH) and maternal serum screening.
    Prenat Diagn. 2002 Aug;22(8):645-648.
  43. Williams MS, Josephson KD, Gursoy N, Jackson-Cook C.
    Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by fluorescence in situ hybridization analysis of sperm.
    Genet Med. 2001 Jul-Aug;3(4):318-320.
  44. Valerio D, Aiello R, Altieri V, Antonucci F.
    [Cytogenic characterization of chromosome markers detected at amniocentesis: implications for karyotype-phenotype correlations]
    Minerva Ginecol. 1996 Sep;48(9):365-369. Italian.
  45. Esmer MC, Carnevale A, Gomez L, del Castillo V, Frias S.
    [Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes]
    Rev Invest Clin. 1996 Jan-Feb;48(1):27-33.
  46. Darnaude MT, Diaz de Bustamante A, Cabello P, Vallcorba I.
    Genetic counselling in a prenatal marker chromosome identified as an i (18p) by in situ hybridization.
    Ann Genet. 1996;39(2):61-63.
  47. Back E, Toder R, Voiculescu I, Wildberg A, Schempp W.
    De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.
    Clin Genet. 1994 Jun;45(6):301-304.
  48. Yu LC, Williams J 3rd, Wang BB, Vooijs M, Weier HU, Sakamoto M, Ying KL.
    Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization.
    Prenat Diagn. 1993 May;13(5):355-361.
  49. Mewar R, Harrison W, Overhauser J.
    Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization.
    Cytogenet Cell Genet. 1993;64(1):1-4.
  50. Park VM, Gustashaw KM, Bilenker RM, Golden WL.
    Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes.
    Am J Med Genet. 1991 Nov 1;41(2):180-183.
  51. Singer TS, Kohn G, Yatziv S.
    Tetrasomy 18p in a child with trisomy 18 phenotype.
    Am J Med Genet. 1990 Jun;36(2):144-147.
  52. Kuleshov NP, Zaletaev DV, Levina LIa, Dement'eva GM, Arbuzov SP.
    [Tetrasomy of the short arm of human chromosome 18: cytogenetics and phenotypic disorders]
    Tsitol Genet. 1985 Nov-Dec;19(6):452-456. Russian
  53. Froster-Iskenius U, Coerdt W, Rehder H, Schwinger E.
    Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology.
    Clin Genet. 1984 Dec;26(6):549-554.
  54. Cote GB, Petmezaki S, Bastakis N.
    A gene for hypospadias in a child with presumed tetrasomy 18p.
    Am J Med Genet. 1979;4(2):141-146.
  55. Ogata K, Iinuma K, Kammura K, Morinaga R, Kato J.
    A case report of a presumptive +i(18p) associated with serum IgA deficiency.
    Clin Genet. 1977 Mar;11(3):184-188.
  56. Balicek P, Zizka J, Lichy J.
    An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl.
    Clin Genet. 1976 Feb;9(2):192-196.
  57. Eggermann T, Engels H, Apacik C, Moskalonek B, Muller-Navia J, Schwanitz G, Stengel-Rutkowski S.
    Tetrasomy 18p caused by paternal meiotic nondisjunction.
    Eur J Hum Genet. 1997 May-Jun;5(3):175-177.
  58. Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, Orum A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert JC, Guzda M, Tommerup N, Brondum-Nielsen K.
    Tetrasomy 18p de novo: parental origin and different mechanisms of formation.
    Eur J Hum Genet. 1996;4(3):160-167. Erratum in: Eur J Hum Genet 1996;4(5):291.
  59. Nielsen KB, Dyggve H, Friedrich U, Hobolth N, Lyngbye T, Mikkelsen M.
    Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.
    Hum Genet. 1978 Oct 19;44(1):59-69.
  60. Doco-Fenzy M, Navrocki B, Cornillet P, Sabouraud P, Robillard P, Gruson N, Gaillard D, Adnet JJ.
    Use of chromosome painting for marker chromosome identification in two children with congenital disorders.
    Bull Assoc Anat (Nancy). 1994 Jun;78(241):9-13.
  61. Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G.
    Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.
    Ann Genet. 1999;42(2):75-80.
  62. Fryns JP, Kleczkowska A, Marien P, Van den Berghe H.
    18p tetrasomy. Further evidence for a distinctive clinical syndrome.
    Ann Genet. 1985;28(2):111-112.
  63. Nakashima H, Hasegawa T, Sakai M, Inaba R, Imamura T.
    Identification of iso(18p) marker chromosome by fluorescence in situ hybridization with single-copy DNA probe.
    Jpn J Hum Genet. 1995 Jun;40(2):185-188.
  64. Schinzel A.
    Particular behavioral symptomatology in patients with rarer autosomal chromosome aberrations.
    In: Schmid W, Nielsen J (eds): 1981; „Human Behavior and genetics“. Amsterdam: Elsevier/North Holland. 195-210.
  65. 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.
  66. Timur AA, Sadgephour A, Graf M, Schwartz S, Libby ED, Driscoll DJ, Wang Q.
    Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome.
    Ann Hum Genet. 2004 Jul;68(Pt 4):353-361.
  67. Piurek A, Meck J, Zafer E, Scribanu N, Boles D
    Postnatal detection of nonmosaic tetrasomy 18p in an infant with multiple congenital abnormalities, characterized by G-banding and FISH.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 194  (Abstractnummer 994).
  68. Lin CC, Li YC, Hsieh LJ, Chen CP, Ko TM, Tzeng CC, Yang ML, Fang JS, Li MS, Tzeng LS, Pan YJ, Lin SK, Tsai FJ
    A referral center for prenatal FISH study in Taiwan-first year experience.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 194  (Abstractnumber 991).
  69. Perry J, Nouri S, La P, Daniel A, Wu Z, Purvis-Smith S, Northrop E, Choo KH, Slater HR.
    Molecular distinction between true centric fission and pericentric duplication-fission.
    Hum Genet. 2005 Mar;116(4):300-310.
  70. 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.
  71. Midyan S, Nazaryan L, Sarkisyan T
    Chromosomal rearrangements in Armenia registery of chromosomal abnormalities
    Europ J Hum Genet 2005; 13 Suppl. 1:141-142 (Abstractno. P0289).
  72. Ferrando Palacio P, Villalon Villarroel C, Garcia-Sagredo JM, Sordo de Carrillo MT, Ferro Delgado MT, Talavera Yagüez M, Cabello Albendea P, San Roman C.
    De novo terasomy 18p in two cases of second trimenster prenatal diagnosis.
    Chromosome Res 2005; 13 suppl. 1, 124 (abstract 7.9-P)
  73. Kocarek E, Novotna D, Marikova T, Cernakova I, Losan F, Balicek P, Baxova A, Havlovicova M, Goetz P.
    [Case reports of patients with a marker chromosome]
    Cas Lek Cesk. 2004;143(10):708-711; discussion 711-712.
  74. 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.
  75. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F, Starke H.
    Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.
    Cytogenet Genome Res. 2006;112(1-2):23-34.
  76. Grati FR, Grimi B, Frascoli G, Di Meco AM, Liuti R, Milani S, Trotta A, Dulcetti F, Grosso E, Miozzo M, Maggi F, Simoni G.
    Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.
    Eur J Hum Genet. 2006 Mar;14(3):282-288.
  77. Velagaleti GV, Tharapel SA, Martens PR, Tharapel AT.
    Rapid identification of marker chromosomes using primed in situ labeling (PRINS).
    Am J Med Genet. 1997 Aug 8;71(2):130-133.
  78. Esmer MC, Frias S, Gomez L, Carnevale A.
    Tetrasomy 18p in two cases confirmation by in situ hybridization.
    Ann Genet. 1994;37(3):156-159.
  79. Borrego Lopez S, Nieto Barrera M, Antinolo Gil G, Sanchez Garcia S, de la Rosa Olivery A.
    Tetrasomia 18p: Aportacion de un caso.
    An Esp Padiatr 1988; 29(1):80-82
  80. Teshima IE, Kalousek DK, Vekemans MJ, Markovic V, Cox DM, Dallaire L, Gagne R, Lin JC, Ray M, Sergovich FR, Uchida IA, Wang H, Tomkins DJ.
    Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples.
    Prenat Diagn. 1992 May;12(5):443-466.
  81. Hansmann D, Hansmann M, Eggermann T, Weiss H, Gembruch U.
    Mosaic tetrasomy 18p: Studies of parent and cell division of origin, prenatal and postnatal findings in 3 carriers
    Abstract band of the 11th international congress of human genetics, 06-11.08.2006, Brisbane, Australia, p 193, Abstract 1226
  82. Brecevic L, Michel S, Starke H, Muller 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.
  83. Mattei JF, Philip N, Mattei MG, Giraud F.
    [Small supernumerary chromosomes]
    J Genet Hum. 1985 Dec;33(5):389-396. French.
  84. Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT, Salavoura K, Mavrou A.
    Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
    In Vivo. 2006 Jul-Aug;20(4):473-478.
  85. Ramegowda S, Gawde HM, Hyderi A, Savitha MR, Patel ZM, Krishnamurthy B, Ramachandra NB.
    De novo isochromosome 18p in a female dysmorphic child.
    J Appl Genet. 2006;47(4):397-401.
  86. 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.
  87. Bakshi SR, Brahmbhatt MM, Trivedi PJ, Chudoba I.
    Constitutional tetrasomy 18p.
    Indian Pediatr. 2006 Apr;43(4):357-360.
  88. Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, Liehr T, Vermeesch JR.
    Array painting using microdissected chromosomes to map chromosomal breakpoints.
    Cytogenet Genome Res. 2007;116(3):158-166.
  89. 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.
  90. 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.
  91. Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG.
    Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
    Genet Med. 2007 Mar;9(3):150-162.
  92. Hernandez A, Corona-Rivera E, Plascencia L, Nazara Z, Ibarra B, Cantu JM.
    De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances.
    Ann Genet. 1979;22(3):165-167.
  93. San Martin V, Fernandez-Novoa C, Hevia A, Novales A, Fornell J, Galera H.
    Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment.
    Ann Genet. 1981;24(4):248-250.
  94. 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.
  95. 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.
  96. Hammad SA, El Bassyouni HT, El-Gerzawy AS, Shehab MI.
    Phenotype-genotype correlation in Egyptian patients with chromosome 18 aberrations.
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p121 (Abstractnr. P0390)
  97. 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).
  98. 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.
  99. 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):261-282.
  100. Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.
    Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.
    Clin Genet. 1994 Dec;46(6):423-429.
  101. Li S, Tuck-Muller CM, Martínez JE, Rowley ER, Chen H, Wertelecki W.
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