A PARTIAL TRISOMY 2p(p21->pter) DERIVED FROM A PATERNAL t(2;4)(p21;q33) KARYOTYPE
Mahjoubi F1,*, Zolfagary N2
*Corresponding Author: Dr. Frouzandeh Mahjoubi, Clinical Genetic Department, National Research Institute of Genetic Engineering and Biotechnology, Pajoohesh Blvd., Karaj High Way, P.O. Box 14155-6343, Tehran, Iran; Tel.: +9821-4580389; Fax: +9821-4580399; E-mail: Frouz@nigeb.ac.ir
page: 41

REFERENCES

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2. Francke U, Jones KL. The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. Am J Dis Child. 1976; 130(11): 1244-1129.

3. Francke U. Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p), dup(2q),dup(3p),dup(3q). Birth Defects Orig Artic Ser. 1978; 14(6C): 191-217.

4. Armendares S, Salamanca-Gómez F. Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation: Clin Genet. 1978; 13(1): 17-24.

5. Zuñiga R, Torres de Caballero OM, Mondragon A. Direct duplication 2p14 to 2p23. Hum Genet. 1979; 48(2): 241-244.

6. Kishi K, Matsutani Y, Iwatsubo T, Nishimura K, Tonomura A. A case of partial trisomy 2p (region 2p21 to 2pter) derived from a maternal t(2;15)(p21;q26). Jinrui Idengaku Zasshi. 1980; 25(1): 47-53.

7. Nagano H, Kano Y, Kobuchi S, Kajitani T. A case of partial 2p trisomy with neuroblastoma. Jinrui Idengaku Zasshi. 1980; 25(1): 39-45.

8. Parruti G, Di Ilio C, Calabrese G, Stuppia L, Guanciali Franchi P, Aceto A, Palka G. A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. Ann Genet. 1989; 32(1): 55-58.

9. Barch MJ, Knutsen T, Spurbeck JL: The AGT Cytogenetics Laboratory Manual. Philadelphia: Lippincott-Raven Publishers, 1997.

10. Pueschel SM, Scola PS, Mendoza T. Partial trisomy 2p. J Ment Defic Res. 1987; 31(Pt3): 293-298.

11. Al-Saffar M, Lemyre E, Koenekoop R, Duncan AM, Der Kaloustian VM. Phenotype of a patient with pure partial trisomy 2p(p23pter). Am J Med Genet. 2000; 94(5): 428-432.

12. Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M. Interstitial duplication of the short arm of chromosome 2: report of a new case and review. J Med Genet. 1997; 34(9): 783-786.

13. Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, Chaki R, Barkai G, Frydman M, Rehder H. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am J Med Genet. 2000; 91(1): 74-82.

14. Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM. Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p. Prenat Diagn. 2003; 23(12): 981-984.

15. Chen CP, Liu FF, Jan SW, Lin SP, Lan CC. Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in a fetus associated with shortening of the long bones and a single umbilical artery. Prenat Diagn. 1996; 16(3): 270-275.

16. Hahm GK, Barth RF, Schauer GM, Reiss R, Opitz JM. Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet. 1999; 87(1): 45-48.

17. Lurie IW, Ilyina HG, Gurevich DB, Rumyantseva NV, Naumchik IV, Castellan C, Hoeller A, Schinzel A. Trisomy 2p: analysis of unusual phenotypic findings: Am J Med Genet. 1995; 55(2):229-236.

18. Taylor Clelland CL, Levy B, McKie JM, Duncan AM, Hirschhorn K, Bancroft C. Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome. Mamm Genome. 2000; 11(8): 675-681.


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1 Clinical Genetic Department, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

2 Tehran Medical Genetic Laboratory, Tehran, Iran




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