REPORT OF A NEW CASE WITH PENTASOMY X AND NOVEL CLINICAL FINDINGS
Demirhan O, Tanriverdi N, Yilmaz MB, Kocaturk-Sel S, Inandiklioglu N, Luleyap U, Akbal E, Comertpay G,Tufan T, Dur O
*Corresponding Author: Professor Dr. Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Saricam, Adana, Turkey. Tel: +90-322-338-7140. Fax: +90-322- 338-6572. E-mail: osdemir@cu.edu.tr
page: 85

REFERENCES

1. Kesaree N, Wolley PV. A phenotypic female with 49 chromosomes, presumably XXXXX. J Pediatr. 1963; 63(1): 1099-1103. 2. Linden MG, Bender BG: Robinson A sex chromosome tetrasomy and pentasomy. Pediatrics 1995; 96(4): 672-681. 3. Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, et al. Susceptible chiasmate configurations on chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet. 1996; 14(4): 400-405. 4. Nicolaidis P, Petersen MB. Origin and mechanisms of nondisjunction in human autosomal trisomies. Hum Reprod. 1998; 13(2): 313-319. 5. Robinson WP, Bernasconi-Quadroni F, Lau A, McFadden DE. Origin of trisomy: Effect of ascertainment. Am J Med Genet. 1999; 84(1): 34-42. 6. Diego-Alvarez D, Ramos-Corrales C, Garcia- Hoyos M, Bustamante-Aragones A, Cantalapiedre D, Diaz-Recasens J, et al: Double trisomy in spontaneous miscarriages: Cytogenetic and molecular approach. Hum Reprod. 2006; 21(4): 958-966. 7. Moraes LM, Cardoso LC, Moura VL, Moreira MA, Menezes AN, Llerena JC Jr, et al. Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy. Mol Cytogenet. 2009; 2(1): 20-33. 8. Cho YG, Kim DS, Lee HS, Cho SC, Choi SI. A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. J Clin Pathol. 2004; 57(1): 1004-1006. 9. Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng H-X, et al. Penta X syndrome: A case report with review of the literature. Am J Med Genet. 1991; 40(1): 51-56. 10. Zhang R, Pan N, Li X, Wang XQ, Wu M. A case of 49,XXXXX syndrome. Chin Med J. 1982; 95(12): 891-894. 11. P eet J, Weaver DD, Vance GH. 49,XXXXY: A distinct phenotype. Three new cases and review. Med Genet. 1998; 35(5): 420-424. 12. Monheit A, Francke U, Saunders B, Jones KL. The penta-X syndrome. J Med Genet. 1980; 17(5): 392-396. 13. Boeck A, Gfatter R, Braun F, Fritz B. Pentasomy X and hyper IgE syndrome: Coexistence of two distinct genetic disorders. Eur J Pediatr. 1999; 158(9): 723-726. 14. S ergovich F, Uilenberg C, Pozsonyi J. The 49,XXXXX chromosome constitution: Similarities to the 49,XXXXY condition. J Pediatr. 1971; 78(2): 285-290. 15. T oussi T, Halal F, Lesage R, Delorme F. Bergeron A. Renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome. Am J Med Genet. 1980; 6(2): 153-162. 16. Farge P, Dallaire L, Albert G, Melanĉon SB, Potter M, Leboeuf G. Oral and dental development in X chromosome aneuploidy. Clin Genet. 1985; 27(2): 122-126. 17. S choubben E, Decaestecker K, Quaegebeur K, Danneels L, Mortier G, Cornette L. Tetrasomy and pentasomy of the X chromosome. Eur J Pediatr. 2011; 170(1): 1325-1327.



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