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Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome


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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 Article Ser. 1977; 13(3B): 103-110.Search in Google Scholar

Teschler-Nicola M, Killian W. Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident. 1981; 7(1): 6-7.Search in Google Scholar

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; 17(3): 255-265.10.1002/(SICI)1097-0223(199703)17:3<255::AID-PD49>3.0.CO;2-TSearch in Google Scholar

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; 48(3): 319-327.10.1016/j.ejmg.2005.04.018Search in Google Scholar

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; 149A(3): 505-509.10.1002/ajmg.a.32664Search in Google Scholar

Schinzel AA. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991; 28(2): 122-125.10.1136/jmg.28.2.122Search in Google Scholar

Liehr T, Wegner RD, Stumm M, Joksić G, Polityko A, Kosyakova N, Ewers E, Reich D, Wagner R, Weise A. Pallister-Killian syndrome: rare phenotypic features and variable karyotypes. Balkan J Med Genet. 2008; 11(2): 65-68.10.2478/v10034-008-0023-zSearch in Google Scholar

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; 140(11): 1219-1222.10.1002/ajmg.a.31237Search in Google Scholar

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; 143A(24): 2910-2915.10.1002/ajmg.a.31959Search in Google Scholar

Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH, Eds. Human Cytogenetics: A Practical Approach, Vol. I. Constitutional Analysis. Oxford: IRL Press Ltd. 1992: 91-118.Search in Google Scholar

Liehr T. Fluorescence in situ hybridization (FISH) application guide. In: Rautenstrauss B, Liehr T, Eds. FISH Technology. Springer Lab Manual. Berlin: Springer. 2009: 29-30.10.1007/978-3-540-70581-9Search in Google Scholar

Shaffer LG, Slovak ML, Campbell LJ. ISCN 2009: An International System for Human Cytogenetic Nomenclature (2009): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger Publishers, 2009.Search in Google Scholar

Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoï MF, Moirot H, Mattei MG. Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report. Am J Med Genet A. 2003; 118A(3): 229-234.10.1002/ajmg.a.10164Search in Google Scholar

Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. Intrachromosomal triplication of 15q11-q13. J Med Genet. 1994; 31(10):798-803.10.1136/jmg.31.10.798Search in Google Scholar

Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla JA. Intrachromosomal triplication of distal 7p. J Med Genet. 1998; 35(1): 78-80.10.1136/jmg.35.1.78Search in Google Scholar

Wang J, Reddy KS, Wang E, Halderman L, Morgan BL, Lachman RS, Lin HJ, Cornford ME. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. Am J Med Genet. 1999; 82(4): 312-317.10.1002/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9Search in Google Scholar

Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schöning 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; 9(8): 572-576.10.1038/sj.ejhg.5200673Search in Google Scholar

Huang XL, Isabel de Michelena M, Leon E, Maher TA, 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; 72(5): 434-440.10.1111/j.1399-0004.2007.00894.xSearch in Google Scholar

ISSN:
1311-0160
Język:
Angielski
Częstotliwość wydawania:
2 razy w roku
Dziedziny czasopisma:
Medicine, Basic Medical Science, other