CLINICAL MANIFESTATIONS OF PARTIAL TRISOMY 4p
Demirhan O, Özgünen FT, Taştemir D
*Corresponding Author: Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı-Adana/Turkey; Tel. +90-322-338-7140; Fax. +90-322-338-7140; E-mail. osdemir@cu.edu.tr
page: 61

REFERENCES

1. Wilson MG, Towner JW, Coffin GS, Formsan I. Inherited pericentric inversion of chromosome no. 4. Am J Hum Genet. 1970; 22(6): 679-690. 2. Kleczkowska A, Fryns JP, Van den Berghe H. Trisomy of the short arm of chromosome 4: the changing phenotype with age. Ann Genet. 1992; 35(4): 217-223. 3. Dallapiccola B, Mastroiacovo PP, Montali E, Sommer A. Trisomy 4p: five new observations and overview. Clin Genet. 1977; 12(6): 344-356. 4. Gonzalez CH, Sommer A, Meisner LF, Elejalde BR, Opitz JM. The trisomy 4p syndrome: case report and review. Am J Med Genet. 1977; 1(2): 137-156. 5. Bartocci A, Striano P, Mancardi MM, Fichera M, Castiglia L, Galesi O, Michelucci R, Elia M. Partial monosomy Xq(Xq23-qter) and trisomy 4p(4p15.33-pter) in a woman with intractable focal epilepsy, borderline intellectual functioning and dysmorphic features. Brain Dev. 2008; 30(6): 425- 429. 6. Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A. Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet. 1993; 46(1): 72-76. 7. Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR, Editorial Board. Current Protocols in Human Genetics. Published by Current Protocols. Green Publishing Associates Inc. and John Wiley & Sons, 1994. 8. Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, Verma RS. Clinical manifestations of trisomy 4p syndrome. Eur J Pediatr. 1995; 154(6): 425-431. 9. Zollino M, Wright TJ, Di Stefano C, Tosolini A, Battaglia A, Altherr MR, Neri G. Tandem duplication of 4p16.1p16.3 chromosome region associated with 4p16. 3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. Am J Med Genet. 1999; 82(5): 371-375. 10. Bauknecht T, Betteken F, Vogel W. Trisomy 4p due to a paternal t(4p−; 16p+) translocation. Hum Genet. 1976; 34(2): 227-230. 11. Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]. Hum Genet. 1981; 59(4): 297-307. 12. Beaujard MP, Jouannic JM, Bessi`Eres B, Borie C, Martin-Luis I, Fallet-Bianco C, Portno MF. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Prenat Diagn. 2005; 25(6): 451-455.



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