Balkan Journal of Medical Genetics

TURNER SYNDROME WITH ISOCHROMOSOME Xq AND FAMILIAL RECIPROCAL TRANSLOCATION t(4;16)(p15.2;p13.1)
Cetin Z1, Mendilcioglu I2, Yakut S1, Berker-Karauzum S1,*, Karaman B3, Luleci G1
*Corresponding Author: Sibel Berker-Karauzum, Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey; Tel.: +90-242-249-69-70; Fax: + 90-242-227-44-82/227-44-95; E-mail: sibelkarauzum@akdeniz.edu.tr
page: 57

REFERENCES

1. Hjerrild BE, Mortensen KH, Gravholt CH. Turner syndrome and clinical treatment. Br Med Bull. 2008; 86(1): 77-93. 2. Doswell BH, Visootsak J, Brady AN, Graham JM Jr. Turner syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2006; 45(4): 301- 313. 3. Kesler SR. Turner syndrome. Child Adolesc Psychiatr Clin N Am. 2007; 16(3): 709-722. 4. Da Silva AL, Ferriera de Lima RLL, Ribeiro LA, Moretti-Ferreira D. X monosomy and balanced Robertsonian translocation in a girl with Turner syndrome. Genet Molec Biol. 2006; 29(1): 47-48. 5. Krajinovic M, Ivanovic K, Mestroni L, Diklic V, Nikolis J. Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner’s syndrome. J Med Genet. 1994; 31(3): 255-256. 6. László J, Bösze P, Gaál M, Tóth A. A case of 44,X streak gonad syndrome combined with familial balanced 13/14 translocation. Acta Med Hung. 1984; 41(4): 223-227. 7. Salamanca F, Buentello L, Sanchez J, Armendares S. A patient with 44 chromosomes. Ann Genet. 1985; 28(2): 130-132. 8. Annerén G, Frykberg T, Gustavson KH. A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p. Clin Genet. 1981; 20(4): 289-295. 9. Kondo I, Hamaguchi H, Matsuura A, Nakajima H, Koyama A, Takita H. A case of Turner’s syndrome with familial balanced translocation t(1;2)(q32;q21)mat. J Med Genet. 1979; 16(4): 321-323. 10. Lejeune J, Lafourcade J, Salmon C, Turpin R. Familial 2-22 translocation; association with a haplo-X Turner’s Syndrome. Ann Genet. 1963; 6(1): 3-8. 11. 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. 12. Leppig KA, Disteche CM. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. Semin Reprod Med. 2001; 19(2): 147-157. 13. Ruibal Francisco JL, Sánchez Burón P, Piñero Martinez E, Bueno Lozano G, Reverte Blanc F. Turner’s syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients. An Esp Pediatr. 1997; 47(2): 167-171. 14. James RS, Dalton P, Gustashaw K, Wolff DJ, Willard HF, Mitchell C, Jacobs PA. Molecular characterization of isochromosomes of Xq. Ann Hum Genet. 1997; 61(Part 6): 485-990. 15. Wolff DJ, Miller AP, van Dyke DL, Schwartz S, Willard HF. Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet. 1996; 58(1): 154-160.

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