INDICATIONS FOR REFERRAL OF TURNER’S SYNDROME CASES DIAGNOSED PRENATALLY
Yilmaz B1,*, Ozkinay F2, Ercal D3, Sagol S4, Kanit H5, Kirayoglu H1, Ozkinay C2
*Corresponding Author: Assistant Professor Dr. Berna Yilmaz, Gene-Test Genetic Diagnostic Centre, Talatpasa Bulv. No: 33/6, 35520 Alsancak-Izmir, Turkey; Tel.: +90-232-463-45-45; Fax: +90-232-464-65-33; E-mail: bernaylmz@hotmail.com
page: 27

REFERENCES

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2. Gravholt CH, Juul S, Naeraa RN, Hansen J. Prenatal and postnatal prevalence of Turner’s syndrome: a register study. Br Med J 1996; 312(7022): 16-21.
3. Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004; 151(6): 657-687.
4. Saenger P, Albertson WK, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AB, Ranke MB, Rosenffeld R, Silberbach A. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001; 86(7): 3061-3069.
5. Bronshtein M, Zimmer ET, Blazer S. A characteristic cluster of fetal sonografic markers that are predictive of fetal Turner syndrome in early pregnancy. Am J Obstet Gynecol 2003; 188(4): 1016-1020.
6. Biesecker B. Prenatal diagnosis of sex chromosome conditions. Br Med J 2001; 322(7284): 442-443.
7. Brun JL, Gangbo ZPW, Galant K, Taine L, Maugey-Laulom B, Roux D, Mangione R, Horovitz J, Saura R. Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases. Prenat Diagn 2004; 24(3): 213-218.
8. Hamamy AH, Dahoun S. Prenatal decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol 2004; 116(1): 58-62.
9. Baena H, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin MR, Guitart M. Turner syndrome: evaluation of prenatal dagnosis in 19 European registries. Am J Med Genet A 2004; 129(1): 16-20.
10. Drummond CL, Gomes DM, Senat MV, Audibert F, Dorion A, Ville Y. Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population. Prenat Diagn 2003; 23(13): 1068-1072.
11. Huang B, Thangavelu M, Bhatt S, Sandlin JC, Wang S. Prenatal diagnosis of 45,X and 45,X mosaicism: the need for through cytogenetic and clinical evaluations. Prenat Diagn 2002; 22(2): 105-110.
12. Lorda-Sanchez I, Blinkert F, Maechler M, Schinzel A. Molecular study of 45,X conceptuses: correlation with clinical findings. Am J Med Genet 1992; 42(4): 487-490.
13. Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel A. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 1995; 56(2): 444-451.
14. Hsu LYF. Phenotype/karyotype correlations of Y chromosome aneuplodiy with emphasis on structural aber­rations in postnatally diagnosed cases. Am J Med Genet 1994; 53(2): 108-140.
15. Wilson MG, Lin MS, Fujimoto A, Herbert W, Kaplan FM. Chromosome mosaicism in 6000 amnio­­centeses, Am J Med Genet 1989; 32(4): 506-513.
16. Chang HJ, Clarck RD, Bachman H. The phenotype of 45,X/ 46,XY mosaicism: analysis of 92 prenatally diagnosed cases. Am J Med Genet 1990; 46(1): 156-167.
17. Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. 45,X/46,XY Mosaicism: report of 27 cases. Pediatrics 1999; 104(2): 304-308.

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1 CDF Gene-Test Genetic Diagnostic Center, Alsancak-Izmir, Turkey
2 Ege University, Faculty of Medicine, Department.of Medical Genetics, Izmir, Turkey
3 Dokuz Eylul University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey
4 Ege University, Faculty of Medicine, Department of Obstetrics and Gynecology, Izmir, Turkey
5 Tepecik Maternity Hospital, Izmir, Turkey




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