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J Med Genet. 1991 February; 28(2): 122–125.
PMCID: PMC1016781

Tetrasomy 12p (Pallister-Killian syndrome).

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Selected References

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  • 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. [PubMed]
  • Fryns JP, Petit P, Vinken L, Geutjens J, Marien J, Van den Berghe H. Mosaic tetrasomy 21 in severe mental handicap. Eur J Pediatr. 1982 Sep;139(1):87–89. [PubMed]
  • Hunter AG, Clifford B, Speevak M, MacMurray SB. Mosaic tetrasomy 21 in a liveborn male infant. Clin Genet. 1982 Apr;21(4):228–232. [PubMed]
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  • 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. [PubMed]
  • 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. [PubMed]
  • 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. [PubMed]
  • Pauli RM, Zeier RA, Sekhon GS. Mosaic isochromosome 12p. Am J Med Genet. 1987 Jun;27(2):291–294. [PubMed]
  • 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. [PubMed]
  • 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. [PubMed]
  • Young ID, Duckett DP, O'Reilly KM. Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome. Ann Genet. 1989;32(1):62–64. [PubMed]
  • Lopes V, Mak E, Wyatt PR. Prenatal diagnosis of tetrasomy 21. Prenat Diagn. 1985 May-Jun;5(3):233–235. [PubMed]
  • Zhang J, Marynen P, Devriendt K, Fryns JP, Van den Berghe H, Cassiman JJ. Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome. Hum Genet. 1989 Nov;83(4):359–363. [PubMed]
  • Peltomäki 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. [PubMed]
  • Raffel LJ, Mohandas T, Rimoin DL. Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome. Am J Med Genet. 1986 Aug;24(4):607–611. [PubMed]
  • Wenger SL, Steele MW, Yu WD. Risk effect of maternal age in Pallister i(12p) syndrome. Clin Genet. 1988 Sep;34(3):181–184. [PubMed]

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