Balkan Journal of Medical Genetics

MOSAIC INTRACHROMOSOMAL TRIPLICATION OF (12)(p11.2p13) IN A PATIENT WITH PALLISTER-KILLIAN SYNDROME
Yakut S, Mıhcı E, Altiok Clark O, Cetin Z, Keser I, Berker S, Luleci G
*Corresponding Author: Professor Dr. Guven Luleci, Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Arapsuyu, Antalya, Turkey; Tel.: +90-242-249-69-70; Fax: + 90- 242-227-44-95; E-mail: luleci@akdeniz.edu.tr
page: 61

REFERENCES

1. 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. 2. Teschler-Nicola M, Killian W. Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident. 1981; 7(1): 6-7. 3. 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. 4. 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. 5. 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. 6. Schinzel AA. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991; 28(2): 122-125. 7. 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. 8. 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. 9. 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. 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. 11. 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. 12. 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. 13. 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. 14. 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. 15. Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla JA. Intrachromosomal triplication of distal 7p. J Med Genet. 1998; 35(1): 78-80. 16. 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. 17. 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 fi nding of an analphoid, inverted duplicated marker. Eur J Hum Genet. 2001; 9(8): 572-576. 18. 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.

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