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

Yakut, S; Mıhcı, E; Altiok, Clark; Cetin, Z; Keser, I; Berker, S; Luleci, G

doi:10.2478/v10034-012-0010-2

Abstract

Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyo-type was mos 46, XX, inv trp(12)(p11.2p13)[34]/46, XX[16] de novo by conventional cytogenetics and fluorescent in situ hybridization (FISH) analysis. However, this chromosomal abnormality was not detected from the patient's cultured blood lymphocytes. We report here the third patient with intrachromosomal triplication on the short arm of chromosome 12, presenting a PKS phenotype.

References

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-T
Search 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.2005.04.018
Search 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.32664
Search in Google Scholar
Schinzel AA. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991; 28(2): 122-125.10.1136/jmg.28.2.122
Search 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-z
Search 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.31237
Search 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.31959
Search 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: 29-30.10.1007/978-3-540-70581-9
Search 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.10164
Search 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.31.10.798
Search 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.35.1.78
Search 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;2-9
Search 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.5200673
Search 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.x
Search in Google Scholar

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

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