ChromosOmics - Database

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                                                     - REFERENCES for #12 -                                                              

      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 unpublished data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. Von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G, Kotzot D, Liehr T.
    Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11-->q11:)/46,XX karyotype.
    J Med Genet. 2002 Jul;39(7):519-521.
  3. Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schoning M, Enders H, Eggermann T.
    Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.
    Eur J Hum Genet. 2001 Aug;9(8):572-576.
  4. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific  multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
    In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  5. 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.
  6. 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.
  7. Daniel A, Malafiej P.
    A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15.
    Am J Med Genet. 2003 Mar 15;117A(3):212-222.
  8. Cinti R, Priolo M, Lerone M, Gimelli G, Seri M, Silengo M, Ravazzolo R.
    Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association.
    J Med Genet. 2001 Feb;38(2):E6
  9. 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.
  10. 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.
  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. Crolla JA, Dennis NR, Jacobs PA.
    A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.
    J Med Genet. 1992 Oct;29(10):699-703.
  13. de Pater JM, Govaerts LC, de Man SA, van der Sijs-Bos CJ, Christiaens GC, van Dam WM, Loneus WH, Engelen JJ.
    Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques.
    Prenat Diagn. 2003 Sep;23(9):747-751.
  14. Hsu LY, Yu MT, Richkind KE, Van Dyke DL, Crandall BF, Saxe DF, Khodr GS, Mennuti M, Stetten G, Miller WA, Priest JH.
    Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.
    Prenat Diagn. 1996 Jan;16(1):1-28.
  15. Donlon TA, Bangs CD, Hsieh C-L, Hahn J, Hsia YE, Gregory T.
    Interstitial deletion of chromosome 12p in a patient caused by maternal ring formation.
    Am J Hum Genet. 1992; 51 (Suppl): A78.
  16. Siriwardena K, Babul R, Chitayat D, Cytrynbaum C, Dupuis L, Emanuel BS, Kennedy S, Kurahashi H, Nie G, Teebi A, Weksberg R, Winsor E, Teshima I.
    Spectral karyotyping for marker chromosomes.
    Am J Hum Genet 1999; 65(Suppl):A357.
  17. Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M.
    Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
    Am J Med Genet. 2003 Jan 1;116A(1):90-93.
  18. Hunter AG, Clifford B, Cox DM.
    The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome.
    Clin Genet. 1985 Jul;28(1):47-53.
  19. Mauceri L, Sorge G, Incorpora G, Pavone L.
    Pallister-Killian syndrome: case report with pineal tumor.
    Am J Med Genet. 2000 Nov 6;95(1):75-78.
  20. Leube B, Majewski F, Gebauer J, Royer-Pokora B.
    Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
    Am J Med Genet. 2003 Dec 15;123A(3):296-300.
  21. Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G.
    Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.
    Am J Med Genet. 1997 Oct 3;72(1):106-110.
  22. Iacobucci T, Galeone M, De Francisci G.
    Anaesthetic management of a child with Pallister-Killian syndrome.
    Paediatr Anaesth. 2003 Jun;13(5):457-459.
  23. Schuster M, Hoppe U, Eysholdt U, Rosanowski F.
    Severe hearing loss in Pallister-Killian syndrome.
    ORL J Otorhinolaryngol Relat Spec. 2002 Sep-Oct;64(5):343-345.
  24. Struthers JL, Cuthbert CD, Khalifa MM.
    Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases.
    Am J Med Genet. 1999 May 21;84(2):111-115.
  25. Choo S, Teo SH, Tan M, Yong MH, Ho LY.
    Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point.
    J Perinatol. 2002 Jul-Aug;22(5):420-423.
  26. Langford K, Hodgson S, Seller M, Maxwell D.
    Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21.
    Prenat Diagn. 2000 Aug;20(8):670-672.
  27. Graham W, Brown SM, Shah F, Tonk VS, Kukolich MK.
    Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p).
    Arch Ophthalmol. 1999 Dec;117(12):1648-1649.
  28. Grech V, Parascandalo R, Cuschieri A.
    Tetralogy of Fallot in a patient with Killian-Pallister syndrome.
    Pediatr Cardiol. 1999 Mar-Apr;20(2):134-135.
  29. Lapierre JM, Cacheux V, Collot N, Da Silva F, Hervy N, Rivet D, Romana S, Wiss J, Benzaken B, Aurias A, Tachdjian G.
    Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities.
    Ann Genet. 1998;41(3):133-140.
  30. Chiesa J, Hoffet M, Rousseau O, Bourgeois JM, Sarda P, Mares P, Bureau JP.
    Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization.
    Clin Genet. 1998 Oct;54(4):294-302.
  31. Lo IF, Cheung LY, Lam FW, Lam ST.
    Pallister-Killian syndrome: the first reported case in Hong Kong.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1998 Sep-Oct;39(5):333-335.
  32. Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M.
    Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.
    Am J Med Genet. 1998 Sep 23;79(3):215-225.
  33. Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A.
    Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.
    Eur J Hum Genet. 1998 Mar-Apr;6(2):140-144.
  34. Takakuwa K, Hataya I, Arakawa M, Tamura M, Sekizuka N, Tanaka K.
    A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analyses of various cells obtained from the patient.
    Am J Perinatol. 1997 Nov;14(10):641-643.
  35. Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A.
    Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.
    Am J Med Genet. 1997 Mar 17;69(2):166-168.
  36. Mathieu M, Piussan C, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Journel H, et al.
    Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).
    Ann Genet. 1997;40(1):45-54.
  37. Turleau C, Simon-Bouy B, Austruy E, Grisard MC, Lemaire F, Molina-Gomes D, Siffroi JP, Boue J.
    Parental origin and mechanisms of formation of three cases of 12p tetrasomy.
    Clin Genet. 1996 Jul;50(1):41-46.
  38. Los FJ, Van Opstal D, Schol MP, Gaillard JL, Brandenburg H, Van Den Ouweland AM, in 't Veld PA.
    Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.
    Prenat Diagn. 1995 Dec;15(12):1155-1159.
  39. Horn D, Majewski F, Hildebrandt B, Korner H.
    Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.
    J Med Genet. 1995 Jan;32(1):68-71.
  40. Wilson RD, Harrison K, Clarke LA, Yong SL.
    Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish.
    Prenat Diagn. 1994 Sep;14(9):787-792.
  41. Van den Veyver IB, Macha ME, McCaskill C, Carpenter RJ Jr, Shaffer LG.
    Prenatal diagnosis and clinical findings in a case of hexasomy 12p.
    Am J Med Genet. 1993 Dec 1;47(8):1171-1174.
  42. Horneff G, Majewski F, Hildebrand B, Voit T, Lenard HG.
    Pallister-Killian syndrome in older children and adolescents.
    Pediatr Neurol. 1993 Jul-Aug;9(4):312-315.
  43. Abramovich CM, Prayson RA, McMahon JT, Cohen BH.
    Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
    Hum Pathol. 2001 Jun;32(6):649-655.
  44. Bielanska MM, Khalifa MM, Duncan AM.
    Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype.
    Am J Med Genet. 1996 Oct 16;65(2):104-108.
  45. Bernert J, Bartels I, Gatz G, Hansmann I, Heyat M, Niedmann PD, Rehder H, Waldenmaier C, Zoll B.
    Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS.
    Am J Med Genet. 1992 Mar 1;42(5):747-750.
  46. Blancato JK, Hunt M, George J, Katz J, Meck JM.
    Prenatal diagnosis of tetrasomy 12p by in situ hybridization: varying levels of mosaicism in different fetal tissues.
    Prenat Diagn. 1992 Dec;12(12):979-983.
  47. Bresson JL, Arbez-Gindre F, Peltie J, Gouget A.
    Pallister Killian--mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case.
    Prenat Diagn. 1991 Apr;11(4):271-275.
  48. Chrzanowska K, Fryns JP.
    [Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year]
    J Genet Hum. 1989 Sep;37(3):259-261. French.
  49. Kawashima H.
    Skeletal anomalies in a patient with the Pallister/Teschler-Nicola/Killian syndrome.
    Am J Med Genet. 1987 Jun;27(2):285-289. Erratum in: Am J Med Genet 1987 Oct;28(2):527.
  50. Bulter MG, Dev VG.
    Pallister-Killian syndrome detected by fluorescence in situ hybridization.
    Am J Med Genet. 1995 Jul 3;57(3):498-500.
  51. Gonzalez de Dios J, Garcia-Alix Perez A, Diaz de Bustamante A, Delicado Navarro A, Ares Segura S, Salas Hernandez S, Quero Jimenez J.
    [A case of neonatal Pallister-Killian syndrome (tetrasomy 12p)]
    An Esp Pediatr. 1993 Mar;38(3):277-279. Spanish.
  52. Tejada MI, Uribarren A, Briones P, Vilaseca MA.
    A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)
    Prenat Diagn. 1992 Jun;12(6):529-534.
  53. McLean S, Stanley W, Stern H, Fonda-Allen J, Devine G, Ellingham T, Rosenbaum K.
    Prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization.
    Prenat Diagn. 1992 Dec;12(12):985-991.
  54. Birch M, Patterson A, Fryer A.
    Hypopigmentation of the fundi associated with Pallister-Killian syndrome.
    J Pediatr Ophthalmol Strabismus. 1995 Mar-Apr;32(2):128-131.
  55. Priest JH, Rust JM, Fernhoff PM.
    Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis.
    Am J Med Genet. 1992 Apr 1;42(6):820-824.
  56. Pankau R, Diebold U, Jenderny J, Kautza M, Dorner K.
    [Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p)]
    Monatsschr Kinderheilkd. 1992 Jun;140(6):340-342. German.
  57. Persutte WH, Lenke RR.
    Failure of amniotic-fluid-cell growth: is it related to fetal aneuploidy?
    Lancet. 1995 Jan 14;345(8942):96-97.
  58. Reeser SL, Wenger SL.
    Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome.
    Am J Med Genet. 1992 Apr 1;42(6):815-819.
  59. Woodman BF, Jordan MA, Moller LI, Cartwright JD, De Ravel TJ.
    The Pallister-Killian syndrome in an African individual.
    Genet Couns. 1995;6(1):33-36.
  60. Valerio D, De Ponte E, Lavorgna F, Delrio G.
    Mosaic tetrasomy 12p: a new case.
    Prenat Diagn. 1992 Apr;12(4):311-312.
  61. Steinbach P, Rehder H.
    Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p] and a marked LDH-B gene dosage effect.
    Clin Genet. 1987 Jul;32(1):1-4.
  62. Young ID, Duckett DP, O'Reilly KM.
    Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome.
    Ann Genet. 1989;32(1):62-64.
  63. el-Naggar M, Hawthorne M.
    Pallister-Killian syndrome: an unusual presentation.
    J Laryngol Otol. 1994 Aug;108(8):669-670.
  64. Gamal SM, Hasegawa T, Satoh H, Watanabe T, Endo K, Satoh Y.
    Cytogenetic study of a severe case of Pallister-Killian syndrome using fluorescence in situ hybridization.
    Jpn J Hum Genet. 1994 Jun;39(2):259-267.
  65. McLeod DR, Wesselman LR, Hoar DI.
    Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
    J Med Genet. 1991 Aug;28(8):541-543.
  66. Soukup S, Neidich K.
    Prenatal diagnosis of Pallister-Killian syndrome.
    Am J Med Genet. 1990 Apr;35(4):526-528.
  67. Quarrell OW, Hamill MA, Hughes HE.
    Pallister-Killian mosaic syndrome with emphasis on the adult phenotype.
    Am J Med Genet. 1988 Dec;31(4):841-844.
  68. Sharland M, Hill L, Patel R, Patton M.
    Pallister-Killian syndrome diagnosed by chorionic villus sampling.
    Prenat Diagn. 1991 Jul;11(7):477-479.
  69. Ward BE, Hayden MW, Robinson A.
    Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis.
    Am J Med Genet. 1988 Dec;31(4):835-839.
  70. Lin AE, Clemens M, Garver KL, Wenger SL, Steele MW.
    Case of Pallister-Killian syndrome with imperforate anus.
    Am J Med Genet. 1988 Nov;31(3):705-707.
  71. Narahara K, Wakita Y, Kikkawa K, Hiramoto K, Namba H, Murakami M, Kasai R, Kimoto H.
    Pallister-Killian syndrome: cytogenetic and biochemical studies.
    Jinrui Idengaku Zasshi. 1988 Sep;33(3):339-347.
  72. Peltomaki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A.
    Pallister-Killian syndrome: cytogenetic and molecular studies.
    Clin Genet. 1987 Jun;31(6):399-405.
  73. Shivashankar L, Whitney E, Colmorgen G, Young T, Munshi G, Wilmoth D, Byrne K, Reeves G, Borgaonkar DS, Picciano SR, et al.
    Prenatal diagnosis of tetrasomy 47,XY,+i(12p) confirmed by in situ hybridization.
    Prenat Diagn. 1988 Feb;8(2):85-91.
  74. Raffel LJ, Mohandas T, Rimoin DL.
    Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome.
    Am J Med Genet. 1986 Aug;24(4):607-611.
  75. Gilgenkrantz S, Droulle P, Schweitzer M, Foliguet B, Chadefaux B, Lombard M, Chery M, Prieur M.
    Mosaic tetrasomy 12p.
    Clin Genet. 1985 Dec;28(6):495-502.
  76. Zakowski MF, Wright Y, Ricci A Jr.
    Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome).
    Am J Med Genet. 1992 Feb 1;42(3):323-325.
  77. Ohashi H, Ishikiriyama S, Fukushima Y.
    New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization.
    Am J Med Genet. 1993 Jan 1;45(1):123-128.
  78. Sybert VP, Pagon RA, Donlan M, Bradley CM.
    Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.
    J Pediatr. 1990 Apr;116(4):581-586.
  79. Gilgenkrantz S, Fryns JP, Droulle P, Schweitzer M, Chadefaux B, Prieur M.
    [Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21]
    J Genet Hum. 1987 Jan;35(1):51-61. French.
  80. Speleman F, Leroy JG, Van Roy N, De Paepe A, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae MR, Orye E.
    Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.
    Am J Med Genet. 1991 Dec 1;41(3):381-387.
  81. Manasse BF, Lekgate N, Pfaffenzeller WM, de Ravel TJ.
    The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa.
    Clin Dysmorphol. 2000 Jul;9(3):163-165.
  82. 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.
  83. Warburton D, Anyane-Yeboa K, Francke U.
    Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.
    Am J Med Genet. 1987 Jun;27(2):275-283.
  84. Killian W, Teschler-Nicola M
    Case report 72: mental retardation, unusual fascial appearance, abnormal hair.
    Synd Ident 1981; 7: 6-7.
  85. Wenger SL, Boone LY, Steele MW.
    Mosaicism in Pallister i(12p) syndrome.
    Am J Med Genet. 1990 Apr;35(4):523-55.
  86. Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, et al.
    Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.
    Am J Med Genet. 1987 Jun;27(2):257-274.
  87. Pallister PD, Meisner LF, Elejalde BR, Francke U, Herrmann J, Spranger J, Tiddy W, Inhorn SL, Opitz JM.
    The pallister mosaic syndrome.
    Birth Defects Orig Artic Ser. 1977;13(3B):103-110.
  88. Dong L, Falk RE, Williams J 3rd, Kohan M, Schreck RR.
    Tetrasomy 12p--unusual presentation in CVS.
    Prenat Diagn. 2003 Feb;23(2):101-103.
  89. Mowery-Rushton PA, Stadler MP, Kochmar SJ, McPherson E, Surti U, Hogge WA.
    The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.
    Prenat Diagn. 1997 Mar;17(3):255-265.
  90. Doray B, Girard-Lemaire F, Gasser B, Baldauf JJ, De Geeter B, Spizzo M, Zeidan C, Flori E.
    Killian syndrome: difficulties of prenatal diagnosis.
    Prenat Diagn. 2002 Jun;22(6):470-477.
  91. Paladini D, Borghese A, Arienzo M, Teodoro A, Martinelli P, Nappi C.
    Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile.
    Prenat Diagn. 2000 Dec;20(12):996-998.
  92. Zollino M, Bajer J, Neri G.
    Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a pitfall in prenatal diagnosis.
    Prenat Diagn. 1999 Feb;19(2):184-185.
  93. Larramendy M, Heiskanen M, Wessman M, Ritvanen A, Peltomaki P, Simola K, Kaariainen H, von Koskull H, Kahkonen M, Knuutila S.
    Molecular cytogenetic study of patients with Pallister-Killian syndrome.
    Hum Genet. 1993 Mar;91(2):121-127.
  94. Priest JH.
    Prenatal diagnosis of tetrasomy 12p (Pallister-Killian syndrome)
    Prenat Diagn. 1993 Feb;13(2):152.
  95. Hersh JH, Graham JM Jr, Destrempes MM, Greenstein RM.
    Teschler-Nicola/Killian syndrome: a case report.
    J Clin Dysmorphol. 1983 Fall;1(3):20-24.
  96. Kwee ML, Barth PG, Arwert F, Madan K.
    Mosaic tetrasomy 21 in a male child.
    Clin Genet. 1984 Aug;26(2):150-155.
  97. Lopes V, Mak E, Wyatt PR.
    Prenatal diagnosis of tetrasomy 21.
    Prenat Diagn. 1985 May-Jun;5(3):233-235.
  98. Pauli RM, Zeier RA, Sekhon GS.
    Mosaic isochromosome 12p.
    Am J Med Genet. 1987 Jun;27(2):291-294.
  99. Steele MW, Lenkey S.
    Trisomy of chromosome 20/isochrome 12p.
    Clin Genet. 1990 Jul;38(1):79.
  100. Tejada MI, Uribarren A, Briones P, Vilaseca MA.
    A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)
    Prenat Diagn. 1992 Jun;12(6):529-534.
  101. Donnenfeld AE, Campbell TJ, Byers J, Librizzi RJ, Weiner S.
    Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia.
    Am J Obstet Gynecol. 1993 Oct;169(4):1017-1021.
  102. Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH.
    Diaphragmatic hernia in tetrasomy 12p mosaicism.
    J Pediatr. 1993 Apr;122(4):603-606.
  103. Rodriguez JI, Garcia I, Alvarez J, Delicado A, Palacios J.
    Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.
    Am J Med Genet. 1994 Nov 1;53(2):176-181.
  104. von Koskull H, Ritvanen A, Ammala P, Gahmberg N, Salonen R.
    Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample.
    Prenat Diagn. 1989 Jun;9(6):433-437.
  105. 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.
  106. Velagaleti GV, Tapper JK, Rampy BA, Zhang S, Hawkins JC, Lockhart LH.
    A rapid and noninvasive method for detecting tissue-limited mosaicism: detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome.
    Genet Test. 2003, 7(3):219-223.
  107. Amor DJ, Choo KH.
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