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

- sSMC 18 -

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 unpublished data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. 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: Scmid 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.
    Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).
    Am J Med Genet. 1998 Dec 28;80(5):487-490.
  102. Grosso S, Pucci L, Di Bartolo RM, Gobbi G, Bartalini G, Anichini C, Scarinci R, Balestri M, Farnetani MA, Cioni M, Morgese G, Balestri P.
    Chromosome 18 aberrations and epilepsy: a review.
    Am J Med Genet A. 2005 Apr 1;134A(1):88-94.
  103. Johansson B, Mertens F, Palm L, Englesson I, Kristoffersson U.
    Duplication 18p with mild influence on the phenotype.
    Am J Med Genet. 1988 Apr;29(4):871-874.
  104. 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.
  105. Starke H, Senger G, Kossakiewicz M, Tittelbach H, Rau D, Rubtsov N, Trifonov V, Heller A, Hartmann I, Claussen U, Liehr T.
    Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB).
    Prenat Diagn. 2001 Dec;21(12):1049-1052.
  106. Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SD, Hamerton JL.
    Familial mental retardation in a family with an inherited chromosome rearrangement.
    J Med Genet. 1974 Dec;11(4):353-366.
  107. Wolff DJ, Raffel LJ, Ferré MM, Schwartz S.
    Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.
    Am J Med Genet. 1991 Dec 1;41(3):319-321.
  108. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T.
    Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
    Mol Cytogenet. 2008 Apr 15;1(1):6.
  109. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA.
    Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
    Am J Med Genet A. 2006 Dec 15;140(24):2757-2767.
  110. Valentin M, Ottenwalter A, Serero S, Muller F, Luton D, Ducarme G.
    Fluorescence in situ hybridization in prenatal screening: lessons from an inherited chromosome 18 marker.
    Prenat Diagn. 2009 Dec;29(12):1177-1179.
  111. Polityko AD, Lazjuk GI, Liehr T.
    High resolution molecular cytogenetic approaches and study of marker chromosomes.
    Medica Genetics 2008, 7(3):34-40. (in Russian)
  112. 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).
  113. Guilhas C, Palmares MC, Santos MC, Coreiro I, Medeira A, Castedo S, Rendeiro P, Santos HG.
    Tetrasomy of the short arm of chromosome 18. Two new cases.
    Cytogenet Cell Genet 1999, 85(1-2):150-151 (Abstractno: P629).
  114. Lybæk H, Meza-Zepeda LA, Kresse SH, Høysæter T, Steen VM, Houge G.
    Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.
    Eur J Hum Genet. 2008 Nov;16(11):1318-1328.
  115. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 747-749.
  116. Pfeiffer RA, Schulze T.
    Mosaicism in three cases of 47, XY (or XX), +i(18)(p10) detected by interphase FISH of buccal mucosa.
    Ann Genet. 1994;37(4):210-214.
  117. Pinto MR, Silva ML, Ribeiro MC, Pina R.
    Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings.
    Prenat Diagn. 1998 Oct;18(10):1095-1097.
  118. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 759-764.
  119. 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.
  120. Batista DAS, Lisi EC, Wohler E, Walsh M, Hoon A, Cohn R, Hoover-Fong JE
    "Classical" Cytogenetics: Not dead yet.
    ASHG 2009; abstract only online, information from poster.
  121. Kim M, Park C, Park S, Kim M, Lee B, Lee M, Kim D, Ryu H.
    Prenatal diagnosis of a de novo mosaic isochromosome 18p : karyotype discordance between amniocytes and fetal/neonatal blood.
    ASHG 2009; abstract only online, information from poster.
  122. Aktas D, Utine GE, Alanay Y, Boduroglu K, Alikasifoglu M.
    Constitutional Abnormalities of Chromosome 18: Hacettepe University Experience.
    ASHG 2009; abstract only online, information from poster.
  123. 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.
  124. Sheth F, Andrieux J, Sheth J.
    Supernumerary marker chromosome in a child with microcephaly and mental retardation.
    Indian Pediatr. 2010 Mar 7;47(3):277-279.
  125. van der Veken LT, Dieleman MM, Douben H, van de Brug JC, van de Graaf R, Hoogeboom AJ, Poddighe PJ, de Klein A.
    Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies.
    Mol Cytogenet. 2010 Jul 9;3:13.
  126. Dundar M, Caglayan AO, Saatci C, Cetin Z, Arslan K, Uzak AS.
    A case with a rare chromosomal abnormality: isochromosome 18p.
    Genet Couns. 2010;21(1):69-74.
  127. DeBerardinis RJ, Medne L, Spinner NB, Zackai EH.
    DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.
    Am J Med Genet A. 2005 Oct 1;138A(2):155-9.
  128. Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Μalathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.
    Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
    Mol Med Rep 2010, 3:1015-1022.
  129. Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD.
    Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
    Am J Med Genet A. 2010 Sep;152A(9):2164-2172.
  130. Lee JH, Cho HS, Lee ES, Jung BC.
    A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
    Korean J Lab Med. 2010 Jun;30(3):312-317.
  131. Chen CP, Lin CC, Su YN, Tsai FJ, Chen JT, Chern SR, Lee CC, Town DD, Chen LF, Wu PC, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18.
    Taiwan J Obstet Gynecol. 2010 Jun;49(2):188-191.
  132. Bajaj K, Simard M, Klugma S.
    Confined Placental Mosaicism For Tetrasomy - Be Careful Not To Falsely Reassure
    ASHG 2010; abstract 1674 - only online.
  133. Martinez J, Briceno I, Brigmon M, Venegas A.
    47,XX,iso(18p) Case History.
    ASHG 2010; abstract 760 - only online.
  134. Zavala J, Ramirez M, Medina R, Heard P, Carter E, Crandall A, Hale D, Cody J, Escamilla M.
    Psychiatric syndromes in individuals with chromosome 18 abnormalities.
    Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5;153B(3):837-845.
  135. Swingle HM, Ringdahl J, Mraz R, Patil S, Keppler-Noreuil K.
    Behavioral management of a long-term survivor with tetrasomy 18p.
    Am J Med Genet A. 2006 Feb 1;140(3):276-280.
  136. Balkan M, Duran H, Budak T.
    Tetrasomy 18p in a male dysmorphic child in southeast Turkey.
    J Genet. 2009 Dec;88(3):337-340.
  137. Nucaro A, Chillotti I, Pisano T, Pruna D, Cianchetti C.
    Progressive spastic paraplegia as a feature of tetrasomy 18p.
    Am J Med Genet A. 2010 Sep;152A(9):2173-2175.
  138. Brambila Tapia AJ, Figuera L, Vázquez Cárdenas NA, Ramírez Torres V, Vázquez Velázquez AI, García Contreras C, Ramírez Dueñas ML.
    The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.
    Genet Couns. 2010;21(3):277-283.
  139. 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.
  140. Balci S, Tümer C, Karaca C, Bartsch O.
    Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.
    Am J Med Genet A. 2011 May;155(5):1129-1135.
  141. Slavin TP, Kuruvilla K, Curtis CA, Christ LA, Mitchell AL.
    Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations.
    Am J Med Genet A. 2011 Feb 22.
  142. Protta JRM, Sgardioli IC, Vieira TP, Gil-da-Silva-Lopes VL.
    Case report: additional malformations in isochromosome 18p syndrome
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p82 (Abstractnr. P02.062)
  143. Plaiasu VN, Ochiana1 D, Motei1 G, Neagu E, Iancu B, Iancu D.
    Constitutional tetrasomy 18p in a female child - a new case report
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 151 (Abstractnr. P03.087)
  144. Rosa MM, Lluis A, Ramon B, Montse A.
    Identification of a supernumerary marker chromosome in mosaicism in prenatal diagnostics.
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S206 (Abstractnr. 10.P10 - information from poster)
  145. Javeriana B.
    47 XX iso 18p syndrome.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 992F.
  146. White WA, Schatz MP, Sebold C, Hale DE, Cody J.
    Ophthalmic manifestations of tetrasomy 18p.
    J AAPOS. 2011 Jun;15(3):268-271.
  147. 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.
  148. Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR.
    Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
    J Med Genet. 2011 Dec;48(12):831-839.
  149. Eckmann-Scholz C, Tönnies H, Liehr T, Gesk S, Jonat W, Caliebe A.
    Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18 - how to counsel?
    J Matern Fetal Neonatal Med. 2012, 25:200-202.
  150. Plaiasu V, Ochiana D, Motei G, Georgescu A.
    A rare chromosomal disorder - isochromosome 18p syndrome.
    Maedica (Buchar). 2011 Apr;6(2):132-136.
  151. 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.
  152. Sakai Jr N, Terada Abe K, Menezes Formigli L, Fernandes Pereira M, Roese LL, Lima Santos SC, Moura Petter C, Franchini de Oliveira M, Pinto de Oliveira Rizzo IM, Rocha de Carvalho D, Speck Martins CE.
    Estudo citogenetico molecular em pacientes com tetrassomia 18p
    Resumos do II EPACITO - Encontro Paulista de Citogenética 22 a 24 de abril de 2012 • Ribeirão Preto • SP • Brasil
  153. Bradinova IM, Vazharova R, Bichev S, Andonova1 S, Bojinova V, Savov A, Kremensky I.
    A case with isochromosome18p.
    Europ J Hum Genet 20 (Suppl. 1), pp118-119, Abstractnr. P P03.073).
  154. Pavel A, Dimos L, Nedelea F, Gussi I,  Simion R, Stambouli D.
    Discrepancies between QF-PCR and karyotype results in a rare prenatal case of mosaic trisomy 18 and supernumerary marker chromosome 18.
    Europ J Hum Genet 20 (Suppl. 1), p 150, Abstractnr. P05.38).
  155. Schwemmle C, Arslan-Kirchner M, Pabst B, Ptok M.
    [Tetrasomy 18p syndrome and hearing loss : An unusual case.]
    HNO. 2012 Oct;60(10):901-905.
  156. 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.
  157. Noronha Dutra AR, Mancini TI, Satomi Takeno S, Moysés Oliveira M, Kim CA, Alvarez Perez AB, Domenici Kulikowski L, Melaragno MI.
    Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy.
    Cytogenet Genome Res. 2012;138(1):1-4.
  158. 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.
  159. Chen CP, Ko TM, Su YN, Chern SR, Su JW, Chen YT, Town DD, Wang W.
    Prenatal diagnosis of mosaic tetrasomy 18p.
    Taiwan J Obstet Gynecol. 2012 Dec;51(4):625-629.
  160. 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.
  161. 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.
  162. Vazharova RV, Bradinova I, Andonova S, Bichev S, Bojinova V, Stoyanova V, Savov A, Kremensky I.
    Characterization of supernumerary marker chromosomes by high resolution array CGH
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, pp 178-179 (Abstractnr. P05.097).
  163. Shilova NV, Minzhenkova ME, Markova ZG, Kozlova YO, Antonenko VG, Tsvetkova TG, Zolotukhina TV.
    Characterization of 42 small supernumerary marker chromosomes by FISH methods.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 603 (Abstractnr. J20.07).
  164. Dimos L, Pavel A, Mantescu O, Pouris J, Plaiasu V, Nedelea F, Simion R, Stambouli D.
    Our first results of targeted arrayCGH in prenatal and postnatal genetic diagnosis.
    Chromosome Res 2013, 21:S1197 (Abstractnr. 7.P14)
  165. Karaoguz MY, Percin EF, Pala E, Kaymak AO, Tug E, Biri AA.
    Prenatally detected tetrasomy 18p and trisomy 21q due to i(18p) and i(21q) by using cytogenetic and molecular techniques
    Chromosome Res 2013, 21:S1197 (Abstractnr. 13.P26)
  166. 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.
  167. Jung PS, Won HS, Cho IJ, Hyun MK, Shim JY, Lee PR, Kim A.
    A case report of prenatally diagnosed tetrasomy 18p.
    Obstet Gynecol Sci. 2013 May;56(3):190-193.
  168. Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, Lo PS, Wang W, Zhang HY, Chen F, Choy KW.
    Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.
    Prenat Diagn. 2013 Jun;33(6):602-608.
  169. 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.
  170. Vazharova RV, Bradinova I, Andonova S, Bichev S, Bojinova V, Stoyanova V, Savov A, Kremensky I.
    Characterization of supernumerary marker chromosomes by high resolution array CGH
    Europ J Hum Genet 2014: 21(Suppl 2):178-179 (Abstractnr. P05.097).
  171. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  172. Chen CP, Lin CL, Ko TM, Chern SR, Chen YT, Wu PS, Kuo YL, Lee MS, Wang W.
    Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p.
    Taiwan J Obstet Gynecol
    . 2014 Mar;53(1):126-128.
  173. Wei J, Xie Y, He W, Liu W, Jian W, Chen M, Wang D, Wang X, Sun X.
    Clinical outcome: A monosomy 18p is better than a tetrasomy 18p.
    Cytogenet Genome Res
    . 2014;144(4):294-298.
  174. Jaiswal SK, Kumar A, Ali A, Rai AK.
    Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.
    Gene. 2015 Mar 15;559(1):94-98.
  175. Altieri V, Capozzi O, Marzano MC, Catapano O, Di Biase I, Rocchi M, De Tollis G.
    Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1➔qter in prenatal diagnosis: a case report.
    Mol Cytogenet. 2014 Oct 22;7(1):69.
  176. Soileau B, Hasi M, Sebold C, Hill A, O'Donnell L, Hale DE, Cody JD.
    Adults with chromosome 18 abnormalities.
    J Genet Couns. 2015 Aug;24(4):663-674.
  177. Boomer TA, Loia ND, Bensen L, Strecker MN, Wardrop J, Monroe TJ, McCullough R, Saldivar J, Dharajiya N.
    When isochromosomes and noninvasive prenatal testing (NIPT) collide: The technical and clinical challenges of piecing together puzzling cases.
    Europ J Hum Genet 2015, 23 Suppl 1: p61 (Abstractno: PM01.40).
  178. Joosten M, Diderich KEM, Van Opstal D, Govaerts LCP, Riedijk SR, Prinsen AKE, De Vries FAT, Galjaard RJH, Srebniak MI.
    Prenatal whole genome SNP array diagnosis: relevance of unexpected abnormal results in pregnancies with and without ultrasound anomalies.
    Europ J Hum Genet 2015, 23 Suppl 1: p70 (Abstractno: PM01.84).
  179. Cejnova V, Liskova L, Harmas V, Tothova M, Klimova A, Soukupova M, Lastuvkova J.
    Two cases with a rare chromosomal abnormality: isochromosome 18p.
    Europ J Hum Genet 2015, 23 Suppl 1: p222 (Abstractno: PM11.076).
  180. Carreira IM, Pinto MC, Jardim A, Ferreira SI, Simones L, Lavoura N, Mascarenhas A, Galhano E, Goncalves H, Ramos F, Melo JB.
    Molecular characterization of prenatally detected small supernumerary marker chromosomes: improving genotype phenotype correlations.
    Chromosome Res 2015, 23,Suppl 1: S114 (Abstractno: 3.P12).
  181. AC Teichmann, J Hentschel, F Hornemann, J Lemke, V Strehlow, D Mitter.
    A boy with microcephaly, developmental delay and contractures of hands and feet with tetrasomy 18p.
    MedGen 28, p188 (Abstractnummer: P-CytoG-189)
  182. O'Donnell L, Soileau BT, Sebold C, Gelfond J, Hale DE, Cody JD.
    Tetrasomy 18p: report of cognitive and behavioral characteristics.
    Am J Med Genet A. 2015 Jul;167(7):1474-82.
  183. Lildballe DL, Vogel I, Lund IC, Stornes I, Jørgensen MW, Vestergaard EM.
    Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy.
    Prenat Diagn. 2016 Dec;36(12):1112-1114.
  184. Inan C, Sayın NC, Atlı E, Ulusal S, Erzincan S, Uzun I, Gurkan H, Varol FG.
    Tetrasomy 18p in a twin pregnancy with diverse expression in both fetuses.
    Fetal Pediatr Pathol
    . 2016;35(5):339-343.