ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - 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 unpublished data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.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  108. 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.
  109. Antonella V, Pantaleo G, Anna Irma C, Savino C, Selvaggi L.
    Pallister-Killian syndrome presenting through nuchal oedema: cytogenetic investigation and parental origin by molecular analysis in a new case.
    Prenat Diagn. 2004 Mar;24(3):229-230.
  110. Woodward ER, Fews GA, Jay AM, Cullen RE, Williams DK
    Supernumerary ring chromosome 12 mosaicism
    J Med Gen 2004; 41(Sup 1):S54 (Abstractno. 2.15)
  111. Wenger SL, Schmid M, Obringer AC.
    Newborn with diaphragmatic hernia and single cell with marker chromosome: think Pallister-Killian syndrome.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 195 (Abstractnummer 996).
  112. Leung WC, Waters JJ, Chitty L.
    Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses.
    Prenat Diagn. 2004 Oct;24(10):790-795.
  113. van den Berg C, Van Opstal D, Brandenburg H, Wildschut HI, den Hollander NS, Pijpers L, Jan H Galjaard R, Los FJ.
    Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi.
    Prenat Diagn. 2000;20:956-969.
  114. Harris DL, Siu BL, Hummel M, Harbert K, Senft J, Sargent L, Wenger SL.
    Mosaic ring 12p and total anomalous pulmonary venous return.
    Am J Med Genet. 2004; 131A:91-93.
  115. Chiurazzi P, Bajer J, Tabolacci E, Pomponi MG, Lecce R, Zollino M, Neri G.
    Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome.
    Am J Med Genet. 2004;130A:315-316.
  116. de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
    Post-zygotic origin of isochromosome 12p.
    Prenat Diagn. 2004; 24(12):984-988.
  117. 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.
  118. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  119. Polityko AD, Rumyantseva NV, Starke H, Liehr T.
    Small supernumerary marker chromosomes characterized by multicolor FISH techniques: database of Belarusian National Registry of Chromosomal Abnormalities.
    Europ J Hum Genet 2005; 13 Suppl. 1:141-142 (Abstractno. P0289)
  120. Polityko AD, Goncharova E, Shamgina L, Drozdovskaja N, Podleschuk L, Abramchik E, Jaroshevich E, Khurs O, Pisarik I, Pribushenya O, Rumyantseva N, Naumchik I.
    Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.
    J Histochem Cytochem. 2005 Mar;53(3):361-364.
  121. Delahaye A, Pipiras E, Delorme-Vincent, Benkhalifa M, Kasakyan S, Devisme L, Wolf J-P, Bezacken B.
    Retrospective diagnosis of Pallister-killian syndrome by CGH array.
    Chromosome Res 2005; 13 suppl. 1, 34 (abstract 1.42-P)
  122. Pescia G, Silacci C, Coquoz R.
    Cytogenetic and molecular studies of a paternally derived i(p12)
    Chromosome Res 2005; 13 suppl. 1, 68 (abstract 1.124-P)
  123. Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns JP, Liehr T.
    Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
    Eur J Med Genet. 2005 Jul-Sep;48(3):319-327.
  124. 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.
  125. 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.
  126. Sanchez-Carpintero R, McLellan A, Parmeggiani L, Cockwell AE, Ellis RJ, Cross JH, Eckhardt S, Guerrini R.
    Pallister-Killian syndrome: an unusual cause of epileptic spasms.
    Dev Med Child Neurol. 2005 Nov;47(11):776-779.
  127. Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.
    Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
    Genet Couns. 2004;15(4):405-410.
  128. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S.
    The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.
    Eur J Med Genet. 2006 May-Jun;49(3):207-314.
  129. McGrath P, Gardener G, Bryan J, Citraro A, Gibson K
    Prenatal diagnosis of Pallister-Killian syndrome
    Abstract band of the 11th international congress of human genetics, 06-11.08.2006, Brisbane, Australia, p 194, Abstract 1230.
  130. 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.
  131. 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.
  132. Smigiel R, Pilch J, Makowska I, Slezak R, Sasiadek MM.
    Pallister-Killian syndrome in a child with rare karyotype - a diagnostic problem.
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p118 (Abstractnr. P0379)
  133. Krutilkova V, Hlavova E, Trkova M, Loukova M, Sehnalova J, Jencikova N, Zemanova Z, Michalova K.
    Two prenatal cases of Pallister-Killian syndrome
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p137 (Abstractnr. P0463)
  134. Kocbas A, Karaman B, Baseran S, Yüksel-Apak M, Kayserili H.
    Pallister-Killian phenotype and follow-up data of 12 cases with tetrasomy and trisomy.
    Chr Res 2007, Vol 15 Suppl. 1, p 99 (Abstractnr. 1.174-P - information from poster)
  135. Schell-Apacik C, Wettwer M, Jakobeit M, Ertl-Wagner B, Heinrich U, Müller-Navia J, von Voss H.
    Case report: patient with psychomotoric delay, dysmorphic features and hearing impairment due to a de novo translocation 8p;12p resulting in the karyotype 47,XY,+dic(8;12)(8pter->q11.1::12q11.1->12pter).
    Chr Res 2007, Vol 15 Suppl. 1, p 34 (Abstractnr. 1.26-P)
  136. Pinto M, Jardim A, Matoso E, Mascarenhas A, Paiva P, Ferrao J, Equipa de DPN, Sa J, Carreira IM.
    Three clinical pictures of Pallister-Killian syndrome.
    Chr Res 2007, Vol 15 Suppl. 1, p 64 (Abstractnr. 1.96-P)
  137. Uyguner O, Ghabari A, Uzumcu A, Karaman B, Kayserili H, Wollnik B, Yüksel-Apak M, Baseran S.
    The formation of isochromosome 12p in 8 cases with Pallister-Killian syndrome.
    Chr Res 2007, Vol 15 Suppl. 1, p 258 (Abstractnr. 13.1-O)
  138. Wu HC, Lin LH, Tsai LP, Huang CH, Hung KL, Liao HT.
    Pallister-Killian syndrome: report of one case.
    Acta Paediatr Taiwan. 2006 May-Jun;47(3):139-141.
  139. Stalker HJ, Gray BA, Bent-Williams A, Zori RT.
    High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
    Am J Med Genet A. 2006 Sep 15;140(18):1950-1954.
  140. Tekin M, Jackson-Cook C, Pandya A.
    De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.
    Am J Med Genet. 2001 Nov 15;104(1):42-46.
  141. Huang XL, Isabel de Michelena M, Leon E, Maher T, McClure R, Milunsky A.
    Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.
    Clin Genet. 2007 Nov;72(5):434-440.
  142. Turocy JF, Surti U, Madan-Khetarpal S, James E.
    An unusual marker resulting in partial tetrasomy 12p in a patient with multiple congenital anomalies.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p314 (Abstractno. 1581 - information directly from poster).
  143. Simovich MJ, Kang SHL, Patel A, Pursley A, Chinault AC, Lupski JR, Beaudet AL, Van den Veyer IB, Cheung SW.
    Prenatal detection and characterization of supernumerary marker chromosomes by array-CGH.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p458 (Abstractno. 2423 - information directly from poster).
  144. Davidsson J, Collin A, Oreberg M, Gisselsson D.
    Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12.
    Clin Genet. 2008 Jan;73(1):44-49.
  145. Chen CP, Tsai FJ, Chern SR, Lee CC, Town DD, Wang W.
    Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p.
    Prenat Diagn. 2007 Dec;27(12):1170-1173.
  146. 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.
  147. Rauch A, Trautmann U, Pfeiffer RA.
    Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome".
    Am J Med Genet. 1996 May 3;63(1):243-249.
  148. Liang D, Wu L, Pan Q, Harada N, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J.
    A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.
    Am J Med Genet A. 2006 Feb 1;140(3):238-144.
  149. 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.
  150. 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.
  151. Kirchhoff M, Gerdes T, Brunebjerg S, Bryndorf T.
    Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.
    Am J Med Genet A. 2005 Dec 15;139(3):231-233.
  152. Kim MH, Park SY, Kim MY, Lee BY, Lee MH, Ryu HM.
    Prenatal diagnosis of Pallister-Killian syndrome in two fetuses with increased nuchal translucency.
    Prenat Diagn. 2008 May;28(5):454-456.
  153. Abad DE, Gabarre JA, Izquierdo AM, López-Sánchez C, García-Martínez V, Izquierdo AG.
    Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency.
    J Ultrasound Med. 2006 Nov;25(11):1475-1480.
  154. Liberati M, Melchiorre K, D'Emilio I, Guanciali-Franchi PE, Iezzi I, Rotmensch S, Celentano C.
    Fetal facial profile in Pallister-Killian syndrome.
    Fetal Diagn Ther. 2008;23(1):15-17.
  155. Baglaj M, King J, Carachi R.
    Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects.
    J Pediatr Surg. 2008 Jun;43(6):1218-1221.
  156. Knab J, Heupel EW, Steinmann D.
    Anesthesia for orthopedic surgery in Pallister-Killian syndrome.
    Paediatr Anaesth. 2008 Jul;18(7):682-684.
  157. Ramírez Fernández MA, García Cavazos R, Sánchez Martínez HF.
    [Pallister-Killian syndrome. Case report]
    Ginecol Obstet Mex. 2007 Jul;75(7):412-418. Spanish.
  158. Powis Z, Kang SH, Cooper ML, Patel A, Peiffer DA, Hawkins A, Heidenreich R, Gunderson KL, Cheung SW, Erickson RP.
    Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.
    Am J Med Genet A. 2007 Dec 15;143A(24):2910-2915.
  159. Yamamoto H, Fukuda M, Murakami H, Kamiyama N, Miyamoto Y.
    A case of Pallister-Killian syndrome associated with West syndrome.
    Pediatr Neurol. 2007 Sep;37(3):226-228.
  160. 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.
  161. Delahaye A, Pipiras E, Delorme-Vincent C, Benkhalifa M, Kasakyan S, Devisme L, Wolf JP, Benzacken B.
    Retrospective diagnosis of Pallister-Killian syndrome by CGH array.
    Fetal Diagn Ther. 2006;21(6):485-488.
  162. Gerdes AM, Hansen LK, Brandrup F, Soegaard K, Christoffersen A, Rasmussen K.
    Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.
    Pediatr Dermatol. 2006 Jul-Aug;23(4):378-381.
  163. Tang W, Wenger SL.
    Cell death as a possible mechanism for tissue limited mosaicism in Pallister-Killian syndrome.
    J Assoc Genet Technol. 2005;31(4):168-169.
  164. Borys D, Taxy JB.
    Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study.
    Pediatr Dev Pathol. 2004 Jan-Feb;7(1):35-28.
  165. Guareschi E, Garavelli L, Pedori S, Di Lernia V, Grenzi L, Franchi F, Marinelli M, Croci GF, Pedretti E, Amarri S, Banchini G, Albertini G.
    Dermatologic features in Pallister-Killian syndrome and their importance to the diagnosis.
    Pediatr Dermatol. 2007 Jul-Aug;24(4):426-428.
  166. Saito Y, Masuko K, Kaneko K, Chikumaru Y, Saito K, Iwamoto H, Matsui A, Aida N, Kurosawa K, Kuroki Y, Kimura S.
    Brain MRI findings of older patients with Pallister-Killian syndrome.
    Brain Dev. 2006 Jan;28(1):34-38.
  167. Schaefer GB, Jochar A, Muneer R, Sanger WG.
    Clinical variability of tetrasomy 12p.
    Clin Genet. 1997 Feb;51(2):102-108.
  168. Kolarski M, Joksić G, Bereš M, Krstić A, Joksić I, Dobrojević B, Nikić S.
    Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH.
    Arch Gynecol Obstet. 2009 Mar;279(3):377-279.
  169. de Oliveira AL, Ortega Ade O, Ciamponi AL.
    Pallister-Killian syndrome (PKS): clinical case report.
    J Clin Pediatr Dent. 2006 Spring;30(3):257-260.
  170. Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P.
    Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
    Am J Med Genet A. 2006 Jun 1;140(11):1219-1222.
  171. Lubinsky M.
    A case report of Teschler-Nicola/Killian syndrome.
    J Clin Dysmorphol. 1983 Fall;1(3):25-27.
  172. Coleman M, Randall J.
    Seizure disorder, mental retardation, unusual facies, and abnormal hair.
    J Clin Dysmorphol. 1983 Fall;1(3):28-29.
  173. Geneviève D, Sznajer Y, Raoul M, Sanlaville D, Verloes A, Portnoï MF, Bauman C.
    Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p).
    Am J Med Genet A. 2003 Oct 1;122A(2):180-182.
  174. 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.
  175. Diack JS, Brown T, Dean JC.
    Prenatal diagnosis of Pallister-Killian syndrome: low level mosaicism or pseudomosaicism?
    J Med Gen 29:212-213 (Abstract)
  176. Boyle AH, Kulkarni R, Smoleniec JS, Davies T, McDermott A.
    Prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling--its diagnostic problems.
    Prenat Diagn. 1993 Dec;13(12):1160-1161.
  177. Hebenstreit ?, Heyborne KD, Porreco RP.
    Sonographic and cytogenetic aspects of the prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome: a case report and review of the literature).
    J Matern Fetal Med 2: 176-178 (Abstract?)
  178. Lalatta F, Salmona S, Fogliani R, Rizzuti T, Nicolini U.
    Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.
    Prenat Diagn. 1998 Aug;18(8):834-837.
  179. Smigiel R, Pilch J, Makowska I, Busza H, Slezak R, Sasiadek MM.
    The Pallister-Killian syndrome in a child with rare karyotype-a diagnostic problem.
    Eur J Pediatr. 2008 Sep;167(9):1063-1065.
  180. Abad DE, Gabarre JA, Izquierdo AM, López-Sánchez C, García-Martínez V, Izquierdo AG.
    Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency.
    J Ultrasound Med. 2006 Nov;25(11):1475-1480.
  181. 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)
  182. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 525-527.
  183. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 539-541.
  184. Gerstner T, Bell N, Koenig SA.
    Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome.
    Ther Clin Risk Manag. 2008 Jun;4(3):645-647.
  185. 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.
  186. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL.
    Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
    Prenat Diagn 2009, 29:29-39.
  187. Yeung A, Francis D, Giouzeppos O, Amor DJ.
    Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.
    Am J Med Genet A. 2009 Feb 1;149A(3):505-509.
  188. Liehr T, Wegner R-D, Stumm M, Joksi G, Polityko A, Kosyakova N, Ewers E, Reich D, Wagner R, Weise A.
    Pallister-Killian syndrome. Rare phenotypic features and variable karyotypes.
    Balk J Med Gen 2008:65-67
  189. Blyth M, Baralle D, Lucassen A, Temple IK.
    Study into Pallister-Killian syndrome in Great Britain.
    J Med Gen 2009, 46 (Suppl): S45 (Abstract 1.27)
  190. 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.
  191. Koehler U, Balg S, Reiter K, Hollinski-Feder E.
    Array-CGH detects mosaic tetrasomy 12p (Pallister-Killian syndrome) in peripheral blood without invasive skin biopsy.
    MedGen 2010, 22, p115 (Abstractnr. P-ClinG-072).
  192. Kron A, Seipel B, Bolz HJ, Decker J, Schmitt-Heidsieck S, Bahlmann F, Bergmann C.
    Clinical and genetic challenges in patients with prenatally diagnosed Pallister-Killian syndrome
    MedGen 2010, 22, p117 (Abstractnr. P-ClinG-078).
  193. Koehler U, Locher M, Balg S, Reiter K, Holinski-Feder E.
    Array-CGH detects mosaic tetrasomy 12p (Pallister-Killian syndrome) in peripheral blood without invasive skin biopsy
    Europ J Hum Genet 2010, Vol 18 Suppl 1: p 68 (Abstractnr. P02.045).
  194. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC.
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
    Mol Cytogenet. 2010 Jun 29;3:11.
  195. Frković SH, Durisević IT, Trcić RL, Sarnavka V, Gornik KC, Muzinić D, Letica L, Barić I, Begović D.
    Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.
    Coll Antropol. 2010 Mar;34(1):247-250.
  196. 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.
  197. Shamdeen A, Meyer S, Gottschling S, Oehl-Jaschkowitz B, Gortner L, Shamdeen MG.
    Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
    Klin Padiatr. 2009 Mar-Apr;221(2):97-99.
  198. Kunz J, Schoner K, Stein W, Rehder H, Fritz B.
    Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis.
    Arch Gynecol Obstet. 2009 Dec;280(6):1049-1053.
  199. Vogel I, Lyngbye T, Nielsen A, Pedersen S, Hertz JM.
    Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.
    Am J Med Genet A. 2009 Mar;149A(3):510-544.
  200. Theisen A, Rosenfeld JA, Farrell SA, Harris CJ, Wetzel HH, Torchia BA, Bejjani BA, Ballif BC, Shaffer LG.
    aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
    Am J Med Genet A. 2009 May;149A(5):914-918.
  201. Sananes N, Guigue V, Vayssiere C, Kohler M, Girard-Lemaire F, Flori E, Carelle-Calmels N, Boehm N, Samama B, Doray B, Favre R.
    Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome.
    J Matern Fetal Neonatal Med. 2010 Jun;23(6):558-562.
  202. Park IY, Shin JC, Kwon JY, Koo BK, Kim M, Lim J, Kim Y, Han K.
    Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.
    Korean J Lab Med. 2009 Aug;29(4):366-370.
  203. Cerminara C, Compagnone E, Bagnolo V, Galasso C, Lo-Castro A, Brinciotti M, Curatolo P.
    Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspects.
    J Child Neurol. 2010 Feb;25(2):238-245.
  204. Chen CP, Su YN, Hsu CY, Tsai FJ, Chien SC, Chern SR, Lee MS, Wu PC, Chen HE, Wang W.
    Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome.
    Taiwan J Obstet Gynecol. 2010 Mar;49(1):124-128.
  205. Chen CP, Su YN, Chern SR, Tsai FJ, Wu PC, Chen HE, Chiang SS, Wang W.
    Mosaic tetrasomy 12p with discrepancy between fetal tissues and extraembryonic tissues: molecular analysis and possible mechanism of formation.
    Taiwan J Obstet Gynecol. 2010 Jun;49(2):235-238.
  206. Mourali M, El Fekih C, Dimassi K, Fatnassi A, Zineb NB, Oueslati B.
    First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities.
    Tunis Med. 2010 Sep;88(9):666-669.
  207. Harrison V, Williams R, Connell L, Kini U.
    Diagnosis of Pallister-Killian syndrome by array comparative genome hybridization from a spleen sample.
    Clin Dysmorphol. 2011 Jan;20(1):58-60.
  208. Chaouachi S, Ben Hamida E, Ennine I, Chaabouni M, Sfar R, Chaabouni H, Marrakchi Z.
    Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.
    Tunis Med. 2010 Aug;88(8):614-616.
  209. Demidova IA, Vorsanova SG, Kolotii AD, Yurov YB, Iourov IY.
    Molecular cytogenetic studies of 1p36 deletion syndrome in children with mental retardation and congenital malformations.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 133 (Abstractnr. P03.015)
  210. Iourov IY, Vorsanova SG, Kurinnaia OS, Silvanovich AP, Gorbachevskaya NL, Yurov YB.
    Array CGH detection of genomic/chromosomal rearrangements in children with mental retardation and congenital malformations: the first Russian experience.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 135 (Abstractnr. P03.021)
  211. Ponomareva T, Amelina SS, Zinchenko RA.
    Prevalence monogenetic syndromes of multiple congenital malformations in population of Rostov region (Russia)
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 339 (Abstractnr. P10.54)
  212. Sá MJ, Martins M, Fortuna MA, Teles NO, Oliveira FP, Pires S, Ribeiro SC, Soares G
    Chromosomal mosaicism from a clinical perspective: three different phenotypes, three distinct cases
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S80 (Abstractnr. 1.P80)
  213. Izumi K, Kaur M, Conlin L, Spinner N, Wilkens A, Zhang Z, Krantz I.
    Prenatal somatic overgrowth and postnatal growth deceleration in Pallister Killian syndrome: phenotypic and mechanistic overlap with Beckwith-Wiedemann syndrome.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 963T.
  214. Kira S.
    Anesthetic management of Pallister-Killian syndrome using a Bispectral Index monitor in a patient with severe seizures.
    J Clin Anesth. 2011 Dec;23(8):674-676.
  215. Cruz JR, Videira RL.
    [Anesthesia in child with Pallister-Killian syndrome: case report.].
    Rev Bras Anestesiol. 2004 Oct;54(5):677-680. Portuguese.
  216. Takeuchi M, Kinouchi K, Fukumitsu K, Imura K, Kitamura S.
    Respiratory system compliance and postoperative ventilator dependence in neonates with left-sided congenital diaphragmatic hernia.
    J Anesth. 2001;15(3):139-144.
  217. Murakami M, Iwasa T, Takahashi Y, Morine M.
    Amniocentesis can be useful during the third trimester of pregnancy for antenatal diagnosis of Pallister-Killian syndrome: a case report.
    Clin Exp Obstet Gynecol. 2011;38(3):269-271.
  218. Shah K, George R, Balla ES, Oommen SP, Padankatti CS, Srivastava VM, Danda S.
    An Indian boy with additional features in Pallister-Killian syndrome.
    Indian J Pediatr. 2012 Sep;79(9):1238-1240.
  219. Johnstone ED, Jones EA.
    Ultrasound presentation of Pallister-Killian syndrome with a prominent sacral appendage.
    Ultrasound Obstet Gynecol. 2012 Aug;40(2):239-241.
  220. Shen JD, Liang DS, Zhou ZM, Xia Y, Long ZG, Wu LQ.
    Pallister-Killian syndrome: meiosis II non-disjunction may be the first step in the formation of isochromosome 12p.
    Chin Med J (Engl). 2010 Dec;123(23):3482-3485.
  221. 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.
  222. Giordano L, Viri M, Borgatti R, Lodi M, Accorsi P, Faravelli F, Ferretti MC, Grasso R, Memo L, Prola S, Pruna D, Santucci M, Savasta S, Verrotti A, Romeo A.
    Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patients.
    Eur J Paediatr Neurol. 2012 Nov;16(6):636-641.
  223. Shilova NV, Kozlova YO, Minzhenkova ME, Yudina EV, Markova ZG, Zolotukhina TV.
    Prenatal case of Pallister-Killian syndrome in conjunction with unbalanced t(15;18)
    Europ J Hum Genet 20 (Suppl. 1), p 382, Abstractnr. J05.09).
  224. Hodge JC, Hulshizer RL, Seger P, St Antoine A, Bair J, Kirmani S.
    Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard.
    Am J Med Genet A. 2012 Mar;158A(3):669-673.
  225. Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I.
    Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
    Eur J Med Genet. 2012 Aug;55(8-9):480-484.
  226. Jamuar S, Lai A, Unger S, Nishimura G.
    Clinical and radiological findings in Pallister-Killian syndrome.
    Eur J Med Genet. 2012 Mar;55(3):167-172.
  227. Filloux FM, Carey JC, Krantz ID, Ekstrand JJ, Candee MS.
    Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.
    Eur J Med Genet. 2012 May;55(5):367-373.
  228. 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.
  229. Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID.
    Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.
    Am J Med Genet A    . 2012 Dec;158A(12):3002-3017.
  230. Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID.
    Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
    Am J Med Genet A    . 2012 Dec;158A(12):3046-3053.
  231. Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M.
    Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.
    Am J Med Genet A    . 2012 Dec;158A(12):3018-3025.
  232. Pallister P.
    Pallister-Killian syndrome: historical perspective and foreword.
    Am J Med Genet A    . 2012 Dec;158A(12):2999-3001.
  233. Candee MS, Carey JC, Krantz ID, Filloux FM.
    Seizure characteristics in Pallister-Killian syndrome.
    Am J Med Genet A    . 2012 Dec;158A(12):3026-3032.
  234. Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID.
    Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
    Am J Med Genet A    . 2012 Dec;158A(12):3033-3045.
  235. 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.
  236. Lloveras E, Canellas A, Cirigliano V, Català V, Cerdan C, Plaja A.
    Supernumerary ring chromosome: An etiology for Pallister-Killian syndrome.
    Fetal Diagn Ther. 2013;34(3):172-175.
  237. 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.
  238. Aliu N, Rieubland C, Courage C, Mamavar M, Gallati S, Lemke J.
    Pallister-Killian syndrome due to mosaicism of two supernumerary isochromosomes (hexasomy 12p) in a girl with relatively mild phenotype.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 420 (Abstractnr. P18.61).
  239. 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).
  240. 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.
  241. Shackelford AL, Conlin LK, Hummel M, Spinner NB, Wenger SL.
    Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood.
    Case Rep Genet. 2013; 2013:857926.
  242. Cobben JM, Engelen M, Polstra A.
    Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice.
    Am J Med Genet A. 2013 Jun;161A(6):1517-1519.
  243. Aydin H, Arisoy R, Geckinli B, Erdogdu E, Karaman A, Gokmeydan E, Pekin O, Tugrul S, Yorganci C.
    Tetrasomy 12p presenting with long appendix: a prenatal case.
    Genet Couns. 2013;24(4):439-440.
  244. Tilton RK, Wilkens A, Krantz ID, Izumi K.
    Cardiac manifestations of Pallister-Killian syndrome.
    Am J Med Genet A. 2014 May;164(5):1130-1135.
  245. Toledo-Bravo de Laguna L, del Campo-Casanelles M, Santana-Rodriguez A, Santana-Artiles A, Sebastian-Garcia I, Cabrera-Lopez JC.
    [Three cases of Pallister-Killian syndrome].
    Rev Neurol. 2014 Jan 16;58(2):63-68. Spanish.
  246. Sharma A, Glick H, Campbell J, Biever A.
    Central auditory development in children with hearing impairment: Clinical relevance of the P1 CAEP biomarker in children with multiple disabilities
    Hearing Balance Commun    . 2013 Sep;11(3). doi: 10.3109/21695717.2013.812378.
  247. Letard P, Dupont C, Capri Y, Baumann C, Drunat S, Montagnon M, Verloes A, Benzacken B, Tabet AC.
    Pallister-Killian syndrome: an under-diagnosed syndrome?
    Europ J Hum Genet 2014: 21(Suppl 2):184 (Abstractnr. P05.117).
  248. Aliu N, Rieubland C, Courage C, Mamavar M, Gallati S, Lemke J.
    Pallister-Killian syndrome due to mosaicism of two supernumerary isochromosomes (hexasomy 12p) in a girl with relatively mild phenotype
    Europ J Hum Genet 2014: 21(Suppl 2):420 (Abstractnr. P18.61).
  249. Costa LSA, Moreira M, Zandona-Teixeira A, Dias A, Kulikowski L, Honjo R, Bertola D, Kim C.
    Use of MLPA of buccal smear for Pallister-Killian diagnosis.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p651 (Abstractno. 3159T)
  250. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  251. Izumi K, Zhang Z, Kaur M, Krantz ID.
    12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.
    Chromosome Res. 2014 Dec;22(4):453-461.
  252. Xi H, Wang H, Jia Z, Zhou Y, Yu H, Liu J, Wu L.
    [Prenatal diagnosis of a case of Pallister-Killian syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb 10;32(1):73-76.
  253. Chen CP, Peng CR, Chern SR, Kuo YL, Wu PS, Town DD, Pan CW, Yang CW, Wang W.
    Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome.
    Taiwan J Obstet Gynecol. 2014 Dec;53(4):566-571.
  254. Moro MA, Sanna R, Cambosu F, Soro G, Dessole S, Montella A, Capobianco G.
    Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.
    Clin Exp Obstet Gynecol    . 2014;41(4):483-485.
  255. Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID.
    Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.
    PLoS One. 2014 Oct 16;9(10):e108853.
  256. Izumi K, Zhang Z, Kaur M, Krantz ID.
    12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.
    Chromosome Res. 2014 Dec;22(4):453-461.
  257. Ozlü T, Ocak Z, Ozyurt O.
    Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency.
    Taiwan J Obstet Gynecol    . 2014 Sep;53(3):404-405.
  258. Srinivasan A, Wright D.
    Pallister-Killian syndrome.
    Am J Case Rep. 2014 May 7;15:194-198.
  259. de Athayde Costa LS, Zandona-Teixeira AC, Montenegr MM, Dias AT, Dutra RL, Honjo RS, Bertola DR, Kulikowski LD, Kim CA.
    Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome
    Mol Cytogenet. 2015 Jun 25;8:43.
  260. Sugayama SM, Bertola DR, Albano LMJ, Manissadjian A, Bittencourt EA, Borovik C, Chong AK.
    Síndrome de Pallister Killian ou tetrassomia do braço curto do cromossomo 12 em mosaico: relato de dois casos diagnosticados pela hibridização in situ por fluorescência (FISH).
    Pediatria (São Paulo). 2000; 22:255-63.
  261. Malvestiti F, Agrati C, Malvestiti B, Dulcetti F, Liuti R, Ruggeri A, Chinetti S, Maggi F, Simoni G, Grati FR.
    Derivative from de novo unbalanced translocations: overall frequency, parental origin and mechanism of formation.
    Chromosome Res 2015, 23,Suppl 1: S114 (Abstractno: 3.P12).
  262. Mc Cormack A, Claxton K, Ashton F, Asquith P, Atack E, Mazzaschi R, Moverley P, O'Connor R, Qorri M, Sheath K, Love DR, George AM.
    Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.
    Mol Cytogenet. 2016 Mar 31;9:29.
  263. Nelson G, Iyengar S, Shenefelt P.
    Epidermal nevus presenting in a pediatric patient with Pallister-Killian syndrome.
    Skinmed. 2016 Jun 1;14(3):230-1.
  264. Bagattoni S, D'Alessandro G, Sadotti A, Alkhamis N, Rocca A, Cocchi G, Krantz ID, Piana G.
    Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.
    Am J Med Genet A. 2016 Sep;170(9):2357-64.
  265. Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K.
    Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.
    Mol Genet Genomic Med. 2016 Jan 20;4(3):257-61.
  266. Desseauve D, Legendre M, Dugué-Maréchaud M, Vequeau-Goua V, Pierre F.
    [Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].
    Gynecol Obstet Fertil. 2016 Apr;44(4):200-6.
  267. Didinen S, Atabek D, Kip G, Patır Münevveroğlu A, Tulunoğlu Ö.
    Dental treatment of a child with Pallister-Killian syndrome.
    Case Rep Dent. 2016;2016:4130961.
  268. Santamaria A, Laganà AS, Barresi V, Triolo O, Fondacaro NS, Corrado F.
    Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations.
    J Obstet Gynaecol. 2016;36(3):406-7.
  269. Costa LS, Zandona-Teixeira AC, Montenegro MM, Dias AT, Dutra RL, Honjo RS, Bertola DR, Kulikowski LD, Kim CA.
    Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.
    Mol Cytogenet. 2015 Jun 26;8:43.
  270. Blyth M, Maloney V, Beal S, Collinson M, Huang S, Crolla J, Temple IK, Baralle D.
    Pallister-Killian syndrome: a study of 22 British patients.
    J Med Genet. 2015 Jul;52(7):454-64.
  271. Sukarova-Angelovska E, Kocova M, Ilieva G, Angelkova N, Kochova E.
    Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear
    Mol Cytogenet 2016; 9(1):38
  272. Jang W, Chae H, Kim J, Son JO, Kim SC, Koo BK, Kim M, Kim Y, Park IY, Sung IK.
    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.
    Mol Cytogenet. 2016 Aug 8;9:61.
  273. Li S, Shen H, Jin Y, Liu X, Song Q, Miao Z.
    [Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):682-5.
  274. Libotte F, Bizzoco D, Gabrielli I, Mesoraca A, Cignini P, Vitale SG, Marilli I, Gulino FA, Rapisarda AM, Giorlandino C.
    Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.
    Taiwan J Obstet Gynecol. 2016 Dec;55(6):863-866.
  275. Lee MN, Lee J, Yu HJ, Lee J, Kim SH.
    Using array-based comparative genomic hybridization to diagnose Pallister-Killian syndrome.
    Ann Lab Med. 2017 Jan;37(1):66-70.
  276. Kucińska-Chahwan A, Bijok J, Dąbkowska S, Jóźwiak A, Ilnicka A, Nowakowska B, Jakiel G, Roszkowski T.
    Targeted prenatal diagnosis of Pallister-Killian syndrome.
    Prenat Diagn    . 2017 May;37(5):446-452.
  277. Ren Y, You YQ, Zhou HH, Wang LX, Xu H, Li RB, Wang SJ, Xie XX, Meng YG, Lu YP.
    [Clinical analysis of 21 cases with short fetal femur in the third trimester].
    Zhonghua Fu Chan Ke Za Zhi. 2017 Feb 25;52(2):86-92.
  278. Alesi V, Dentici ML, Restaldi F, Orlando V, Liambo MT, Calacci C, Capolino R, Digilio MC, Hachem ME, Novelli A, Diociaiuti A, Dallapiccola B.
    Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
    Am J Med Genet A. 2017 Jul;173(7):1943-1946.
  279. Liehr T, Acquarola N, Pyle K, St-Pierre S, Rinholm M, Bar O, Wilhelm K, Schreyer I.
    Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos.
    Clin Genet. 2018 Feb;93(2):378-381.
  280. Barkovich EJ, Lateef TM, Whitehead MT.
    Neuroimaging findings in Pallister-Killian syndrome.
    Neuroradiol J. 2018 Aug;31(4):403-411.
  281. Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Chen LF, Wang W.
    Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis.
    Taiwan J Obstet Gynecol. 2017 Dec;56(6):852-856.
  282. Poulton C, Baynam G, Yates C, Alinejad-Rokny H, Williams S, Wright H, Woodward KJ, Sivamoorthy S, Peverall J, Shipman P, Ravine D, Beilby J, Heng JI.
    A review of structural brain abnormalities in Pallister-Killian syndrome.
    Mol Genet Genomic Med    . 2018 Jan;6(1):92-98.
  283. Shiohama T, Fujii K, Shimizu K, Ohashi H, Takatani T, Okamoto N, Nishimura G, Kato M, Shimojo N.
    Progressive subglottic stenosis in a child with Pallister-Killian syndrome.
     Congenit Anom (Kyoto). 2018May;58(3):102-104.
  284. Stone L, Tripuraneni R, Bain M, Hernandez C.
    Pallister-Killian syndrome in a two-year-old boy.
    Clin Case Rep. 2017 Apr 8;5(6):774-777.
  285. Sun M, Zhang H, Li G, Guy CJ, Wang X, Lu X, Gong F, Lee J, Hassed S, Li S.
    Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.
    Sci Rep. 2017 Sep 4;7(1):10395.
  286. Mendelsberg-Fishbein P, García-Delgado C, Muñoz-Martínez LB, Robledo-Cayetano M, Mejía-Marín LJ, Martínez-Barrera LE, Cerrillo-Hinojosa M, Moran-Barroso VF.
    [Pallister-Killian syndrome in a Mexican mestizo patient. Case report].
    Arch Argent Pediatr    . 2018 Feb 1;116(1):e135-e138.
  287. Tidrenczel Z, P Tardy E, Sarkadi E, Simon J, Beke A, Demeter J.
    [Prenatally diagnosed case of Pallister‒Killian syndrome]
    Orv Hetil. 2018 May;159(21):847-852.
  288. Elsheikh A, Al Shehhi M, Goud TM, Itoo B, Al Harasi S.
    Pallister-Killian mosaic syndrome in an Omani newborn: A case report and literature review.
    Oman Med J. 2019 May;34(3):249-253.
  289. Zhang W, Guo Z, Wang W, Sun Y, Zhang C, Wang X, Zhang L, Wang C.
    [Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2018 Apr 10;35(2):232-235.
  290. Thakur S, Gupta R, Tiwari B, Singh N, Saxena KK.
    Pallister-Killian syndrome: Review of fetal phenotype.
    Clin Genet    . 2019 Jan;95(1):79-84.
  291. Santos W, Carneiro MS, do Amaral WN.
    Prenatal diagnosis of Pallister-Killian syndrome.
    Ultrasound Obstet Gynecol    . 2019 Jul;54(1):137-138.
  292. Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID.
    Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
    Am J Med Genet A    . 2018 Dec;176(12):2575-2586.
  293. Li L, Huang L, Huang X, Lin S, He Z, Fang Q.
    Prenatal diagnosis of Pallister-Killian syndrome in one twin.
    Clin Case Rep    . 2018 Jun 13;6(8):1470-1473.
  294. Bertini V, Gana S, Orsini A, Bonuccelli A, Peroni D, Angelo V.
    Advantages of array comparative genomic hybridization using buccal swab DNA for detecting Pallister-Killian syndrome.
    Ann Lab Med    . 2019 Mar;39(2):232-234.
  295. Frisova V, Svobodova IT, Tozzi M, Raskova D.
    Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester.
    Taiwan J Obstet Gynecol    . 2018 Oct;57(5):726-729.
  296. Yerlikaya G, Efetürk T, Springer S, Reischer T.
    Prenatal detection of right aortic arch.
    Arch Gynecol Obstet    . 2019 Apr;299(4):933-938.
  297. Sailer S, Díaz GA, García MH, Díaz AS, Miguélez JMR, Fernández MEM.
    Pallister-Killian syndrome: The diagnosis is in the detail.
    Klin Padiatr    . 2019 Mar;231(2):93-95.
  298. Wang T, Ren C, Chen D, Lu J, Guo L, Zheng L, Liu Y, Chen H.
    Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples.
    Mol Cytogenet    . 2019 Aug 30;12:39.
  299. Alqahtani AS, Putoux A, Bonnet Dupeyron MN, Carneiro M, Lion-Francois L, Rossi M, Tevissen H, Schluth Bolard C, Labalme A, Lesca G, Till M, Edery P, Sanlaville D.
    Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
    Mol Genet Genomic Med. 2019 Oct;7(10):e00939.
  300. Lapresa Alcalde MV, Cubo AM, Martín Seisdedos MC, Cortejoso Hernández J, Doyague Sanchez MJ, Sayagués JM.
    Ductus venosus agenesis as a marker of Pallister-Killian syndrome.
    Medicina (Kaunas)    . 2019 Jul 15;55(7). pii: E374.
  301. Ricci E, Bonfatti R, Rocca A, Sperti G, Cagnazzo V, Vignoli A, Cocchi G, Cordelli DM.
    Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.
    Eur J Paediatr Neurol. 2019 Jul;23(4):653-656.
  302. Wang T, Ren C, Guo L, Lu J, Chen H, Huang H.
    [Combined chromosomal microarray analysis and fluorescence in situ hybridization for prenatal diagnosis of two cases with Pallister-Killian syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):571-573.
  303. Zhang W, Guo Z, Wang W, Sun Y, Zhang C, Wang X, Zhang L, Wang C.
    [Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2018 Apr 10;35(2):232-235.
  304. Karaman B, Kayserili H, Ghanbari A, Uyguner ZO, Toksoy G, Altunoglu U, Basaran S.
    Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.
    Mol Cytogenet    . 2018 Aug 17;11:45.
  305. Gardner RJ, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ.
    Mosaicism with a normal cell line and an autosomal structural rearrangement.
    Med Genet    . 1994 Feb;31(2):108-14.
  306. Fitzgerald PH, Mercer JM.
    Elimination of an abnormal cell line from blood lymphocytes during post-natal growth.
    Clin Genet    . 1980 Jun;17(6):433-6.
  307. Huang MH, Yang IF, Lee C, Chang JS, Wang HC, Tou WS, Ling FC, Lai HL, Tsai LP, Ho SP.
    Pallister-Killian syndrome: Undetected by percutaneous umbilical blood karyotyping and neonatal blood microarray comparative genomic hybridization.
    J Genet Disor Genet Rep 2017; 6:2.
  308. Huang MH, Lee C, Chang JS, Wang HC, Lai HL, Chang CC, Chen TW, Li YF, Lin TT, Yang CY, Ho SP.
    Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.
    Taiwan J Obstet Gynecol    . 2019 Jan;58(1):139-144.
  309. Liehr T, Al-Rikabi A.
    Mosaicism: Reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse autcome. A systematic review.
    Front Genet    . 2019 Nov 11;10:1131.
  310. Xue H, Huang H, Wang Y, An G, Zhang M, Xu L, Lin Y.
    Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.
    Mol Cytogenet    . 2019 Mar 11;12:13.
  311. Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, Choy KW.
    The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
    Prenat Diagn. 2020 Jul;40(8):1005-1012.
  312. Barišić A, Finderle A, Petrović O, Vraneković J.
    Bifid cardiac apex in Pallister-Killian syndrome: case report.
    medicina fluminensis 2020;56(2):189-192.
  313. Rawool A, Srivastava P, Phadke SR.
    Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations.
    J Genet. 2020;99:32.
  314. Toydemir RM, Panza E, Longhurst MC, South ST, Rope AF.
    Seizures and cardiomyopathy in a patient with Pallister-Killian sndrome due to hexasomy 12p mosaicism.
    Mol Syndromol 2020;11:125-129.
  315. Joshi A, Lall M, Agarwal S, Paliwal P, Saviour P, Mahajan S, Puri R, Bijarnia S, Verma I.
    Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples.
    Obstet Gynecol Int J. 2019;10(3):211‒221.
  316. Song X, Wang X, Deng G, Xi N, Zeng L, Chen C, Sun L, Qin S, Ren Y.
    [Prenatal diagnosis of a case of Pallister-Killian syndrome].
    Zhonghua yi xue yi Chuan xue za zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 2020, 37(7):771-773 (Chinese)
  317. Feng X, Zhang Q，Zhang C，Hao S，Zheng L，Wang X.
    Prenatal diagnosis of a Pallister-Killian syndrome case through copy number variation sequencing technique.
    J Internat Reprod Health/Family Plan 2020; 39(2): 131-134.
  318. Espinosa CR, Collin M.
    Functional school-based physical therapy management for a child with Pallister-Killian syndrome: A case report.
    Case Report Posters. Poster 182.
  319. Eid MM, Eid OM, Abdel-Hadi S, Hassib N, Madian A, Afifi HH, Abdel-Salam GMH.
    Clinical variability of Pallister-Killian syndrome in two Egyptian patients.
    J Pediatr Genet 2020; 09(03): 207-210.
  320. Cetin Z, Sanhal C, Karauzum SB, Mendilcioglu I, Yakut S.
    Ultrasonographic and cytogenetic issues in prenatal diagnosis of Pallister Killian syndrome.
    Genet Couns. 2016;27(2):233-237.
  321. Davidsson J, Johansson B.
    Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
    Epigenetics. 2016;11(3):194-204.
  322. Topcu ZG, Uzuner S.
    The effects of physiotherapy and rehabilitation on Pallister-Killian syndrome: A case report.
    J Sports Med Ther. 2018; 3:118-123.
  323. Sadik DI, Al-Hathal M, Ghareeb TM, Abulhasan SJ, Bastaki LA.
    Pallister–Killian syndrome with fibular hypoplasia: a novel clinical manifestation.
    Middle East J Med Genet 2016; 5(2):41-44.
  324. Yahya IWF, Alezzi JI, Akbulut H, Harun P.
    Pallister-Killian syndrome: A case report.
    Pediatr Pract Res 2017; 5(2): 27-3.
  325. Gigliotti MJ, Tachie-Baffour Y, Jafrani RJ, Lane J, Rizk E.
    A novel case of tethered cord in a five-month-old male with Pallister-Killian syndrome.
    Cureus. 2020 Oct 29;12(10):e11240.
  326. Hiraiwa A, Matsui K, Nakayama Y, Komatsubara T, Magara S, Kobayashi Y, Hojo M, Kato M, Yamamoto T, Tohyama J.
    Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis.
    Brain Dev. 2020 Nov 20:S0387-7604(20)30314-4.
  327. Hou D, Hou L, Dong H, Zhou Y, Zhou X, Ji Y, Ji X, Wang X.
    [Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Nov 10;37(11):1276-1279. Chinese.
  328. Vicic A, Medic N, Stipoljev F.
    Prenatal diagnosis of three cases with Pallister Killian syndrome
    ECA-Newsletter 2021, 48, p69-70. Poster 6.P14.
  329. Wang J, Zhuang J, Jiang Y, Fu W, Wang Y.
    [Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):997-1001. Chinese.
  330. Wu X, Xie X, Su L, Lin N, Liang B, Guo N, Chen Q, Xu L, Huang H.
    Prenatal diagnosis of Pallister-Killian syndrome and literature review.
    J Cell Mol Med. 2021 Sep;25(18):8929-8935.
  331. Arghir A, Popescu R, Resmerita I, Budisteanu M, Butnariu LI, Gorduza EV, Gramescu M, Panzaru MC, Papuc SM, Sireteanu A, Tutulan-Cunita A, Rusu C.
    Pallister-Killian syndrome versus trisomy 12p - A clinical study of 5 new cases and a literature review.
    Genes (Basel). 2021 May 26;12(6):811.
  332. Milković I, Tonković Đurišević I, Crkvenac Gornik K, Pokupec Bilić A, Vidaković M, Huljev Frković S.
    Clinical, cytogenetic and molecular findings in patients with Pallister-Killian syndrome.
    Arch Diseas Childh 2021, 106(Suppl 2), Abstr, 85.
  333. Freitas MO, Santos AOD, Barbosa LS, Figueiredo AF, Pellegrini SP, Santos NCK, Paiva IS, Rangel-Pozzo A, Sisdelli L, Mai S, Land MGP, Ribeiro MG, Ribeiro MCM.
    Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father.
    Braz J Med Biol Res. 2022 Jun 22;55:e12072.
  334. Fetta A, Soliani L, Trevisan A, Pugliano R, Ricci E, Di Pisa V, Pignataro V, Angotti M, Rocca A, Salce B, Mancardi MM, Giordano L, Pruna D, Parmeggiani A, Cordelli DM.
    Cognitive, behavioral, and sensory profile of Pallister-Killian syndrome: A prospective study of 22 individuals.
    Genes (Basel). 2022 Feb 16;13(2):356.
  335. Fetta A, Di Pisa V, Ruscelli M, Soliani L, Sperti G, Ubertiello S, Ricci E, Mainieri G, Rocca A, Mancardi MM, Giordano L, Pruna D, Vignoli A, Provini F, Cordelli DM.
    Sleep in children with Pallister Killian syndrome: A prospective clinical and videopolysomnographic study.
    Front Neurol. 2021 Dec 16;12:796828.
  336. Stephens CM, Pavel AM, Mathieson SR, McSweeney N, McNamara B, Moore M, Boylan GB.
    Case report: Early neonatal EEG in two Infants with Pallister Killian syndrome (PKS).
    HRB Open Res. 2022 Feb 18;5:14.
  337. Halabi N, Ramaswamy S, El Naofal M, Taylor A, Yaslam S, Jain R, Alfalasi R, Shenbagam S, Bitzan M, Yavuz L, Abulhoul H, Shankar S, Janjua D, Jadhav D, Al Maazmi MM, Abuhammour W, Alsheikh-Ali A, Al Awadhi M, Al Khayat A, Abou Tayoun AN.
    Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.
    Genome Med. 2022 May 24;14(1):56.
  338. Kostyk P, Salik I.
    Congenital diaphragmatic hernia repair in a patient with Pallister-Killian mosaic syndrome and left ventricular hypoplasia.
    Cureus. 2022 Mar 12;14(3):e23095.
  339. Samango-Sprouse CA, Hamzik MP, Rosenbaum K, Khaksari K, Mitchell F, Kommareddi R, Brooks MR, Tipton E, Sadeghin T, Gropman AL.
    Case report: A case study on the neurodevelopmental profile of a child with Pallister-Killian syndrome and his unaffected twin.
    Front Pediatr. 2022 Mar 15;10:817133.
  340. Wang Y, Lazier J, Myles-Reid D, Noor A, Chitayat D, Greenfeld E.
    Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.
    Clin Case Rep. 2023 Apr 23;11(4):e6632.
  341. Yang Y, Hao W.
    Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.
    Mol Cytogenet. 2023 Sep 4;16(1):23.
  342. Izumi K, Ganetzky RD, Wertheim GBW, Skraban CM, Bedoukian EC, Wilkens A, Fincher C, Thomas NH, Ginsberg JP, Rheingold SR, Conlin LK, Deardorff MA.
    Co-occurrence of Pallister-Killian syndrome and Burkitt lymphoma in a patient with near-normal neurocognitive development.
    Mol Syndromol. 2023 Aug;14(4):303-309.
  343. Zhang F, Yin T, Tang X, Ma S, Meng Q, Song J, Wang Y, Men S, Wang L.
    Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.
    J Assist Reprod Genet. 2023 Sep;40(9):2233-2240.
  344. Burgos CM, Gupta VS, Conner P, Frenckner B, Lally KP, Ebanks AH, Harting MT; Congenital Diaphragmatic Hernia Study Group.
    Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.
    Prenat Diagn. 2023 Sep;43(10):1265-1273.
  345. Su L, Wu X, Liang B, Lin N, Xie X, Cai M, Zheng L, Wang M, Xu L.
    Fetal mosaicism, should conventional karyotype always be performed?
    J Obstet Gynaecol Res. 2023 Dec;49(12):2836-2848.
  346. Chitkara R, Chock V, Barth R, Dahmoush H, Smith C, Matalon DR, Herring M, Hintz S.
    Pallister-Killian syndrome.
    Neoreviews. 2024 Nov 1;25(11):e751-e756.
  347. De Martino L, Russo C, Bifano D, Quaglietta L, Spennato P, Cinalli G.
    Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature.
    Childs Nerv Syst. 2024 Aug;40(8):2619-2623.
  348. Karamysheva TV, Lebedev IN, Minaycheva LI, Nazarenko LP, Kashevarova AA, Fedotov DA, Skryabin NA, Lopatkina ME, Cheremnykh AD, Fonova EA, Nikitina TV, Sazhenova EA, Skleimova MM, Kolesnikov NA, Drozdov GV, Yakovleva YS, Seitova GN, Orishchenko KE, Rubtsov NB.
    A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
    Front Genet. 2024 Mar 11;15:1331066.
  349. Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM.
    Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
    Orphanet J Rare Dis. 2024 Mar 8;19(1):107.
  350. Kerwin AJ Jr, Lop AL, Vicente K, Weiler T, Kana SL.
    Testing with intent in mosaic conditions: A case-based review.
    Cureus. 2023 Nov 29;15(11):e49644.
  351. Jiang X, Liang B, Chen B, Wu X, Wang Y, Lin N, Huang H, Xu L.
    Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.
    Chromosome Res. 2024 Jul 19;32(3):9.