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Year 2017, Volume: 9 Issue: 2, 51 - 60, 01.12.2017

Diclehan Oral Selda Şimşek Hilmi İsi İlyas Yüce

Abstract

References

  • 1. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature. 1990;346:240–244. doi: 10.1038/346240a0.
  • 2. Clépet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell- Badge R, Goodfellow PN. The human SRY transcript. Hum Mol Genet. 1993;2:2007–2012
  • 3. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature. 1991;351:117–121. doi: 10.1038/351117a0
  • 4. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet. 1992;88:471–474. doi: 10.1007/BF00215684.
  • 5. Iida T, Nakahori Y, Komaki R, Mori E, Hayashi N, Tsutsumi O, Taketani Y, Nakagome Y. A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum Mol Genet. 1994;3:1437–1438.
  • 6. Fechner PY, Marcantonio SM, Jaswaney VJ, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD, Amrhein JA, Bard PA. The role of the sex determining region Y gene (SRY) in the etiology of 46,XX maleness. J Clin Endocrinol Metab. 1993;76:690–696.
  • 7. Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, Ruszczynska-Wolska A, Jaruzelska J. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J Med Gene. 1999;36:452–456.
  • 8. Affara NA, Ferguson-Smith MA, Magenis RE, Tolmie JL, Boyd E, Cooke A, Jamieson D, Kwok K, Mitchell M, Snadden L. Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res. 1987;15:7325–7342.
  • 9. Ferguson-Smith MA. X-Y chromosomal interchange in the aetiology of true hermaphrodism and of XX Klinefelter’s syndrome. Lancet. 1966;2:475–6. doi:10.1016/S0140-6736(66)92778-4.
  • 10. Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat Genet. 1994;7:414–9. doi:10.1038/ng0794-414
  • 11. de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981;58:105–16. doi:10.1007/BF00284157.
  • 12. Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, Fellous M. Clinical and anatomical spectrum in XX sex reversed patients: relationship to the presence of Y specific DNA sequences. Clin Endocrinol (Oxf). 1994;40:733–42. doi:10.1111/j.1365-2265.1994.tb02506.x.
  • 13. Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas NA, Fellous M. Genetic evidence that ZFY is not the testis-determining factor. Nature. 1989;342:937–9. doi:10.1038/342937a0.
  • 14.Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, Job JC, Fellous M. A possible common mechanism of “Y-negative” human XX males and XX true hermaphrodites. Hum Genet. 1990;84:356–60. doi:10.1007/BF00196234.
  • 15. Page DC, Brown LG, de la Chapelle A. Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. Nature. 1987;328:437–40. doi:10.1038/328437a0.
  • 16. Ma S, Tang SS, Yuen BH, Bruyere H, Penaherrera M, Robinson WP. Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report. Hum Reprod. 2003;18:2298–301. doi:10.1093/humrep/deg462.
  • 17. Abdelmoula NB, Portnoi MF, Keskes L, Recan D, Bahloul A, Boudawara T, Saad A, Rebai T. Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Ann Genet. 2003;46:11–8. doi:10.1016/S0003-3995(03)00011-X
  • 18. Lopez M, Torres LM, Mendez JP, Cervantes A, Perez-Palacios G, Erickson RP, Alfaro G, Kofman-Alfaro S. Clinical traits and molecular findings in 46,XX males. Clin Genet. 1995;48:29–34
  • 19. Castineyra G, Copelli S, Levalle O. 46,XX male: clinical, hormonal/genetic findings. Arch Androl. 2002;48:251–7.
  • 20. Grigorescu-Sido A, Heinrich U, Grigorescu-Sido P, Jauch A, Hager HD, Vogt PH, Duncea I, Bettendorf M. Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. J Pediatr Endocrinol Metab. 2005;18:197–203.
  • 21. Quiepo G, Zenteno JC, Pena R, Nieto K, Radillo A, Dorantes LM, Erana L, Lieberman E, Soderlund D, Jimenez AL, Ramon G, Kofman-Alfaro S. Molecular analysis in true hermaphroditism: demonstration of low-level mosaicism for Y-derived sequences in 46,XX cases. Hum Genet. 2002;111:278–83. doi:10.1007/s00439-002-0772-9.
  • 22. Numabe H, Nagafuchi S, Nakahori Y, Tamura T, Kiuchi H, Namiki M, Kohda N, Yoshimitsu Fukushima Y, Fuse H, Kusano M, Arai T, Matsuzaki Y, Fukutani K, Isurugi K, Kuroki Y, Ikeuchi T, Yoshida M, Minowada S, Nakagome Y. DNA analysis of XX and XY hypospadic males. Hum Genet. 1990;90:211–4
  • 23.McElreavey K, Salas-Cortes L. X-Y tranlocations and sex differentiation. Semin Reprod Med. 2001;19:133–9. doi:10.1055/s-2001-15393
  • 24. Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, Wolski J, Jacobs P. Variability of sexual phenotype in 46,XX(SRY) patients: the influence of spreading X inactivation versus position effects. J Med Genet. 2005;42:420–7. doi:10.1136/jmg.2004.022053.
  • 25. de la Chapelle, A. (1972) Analytic review: nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet., 24, 71–105.
  • 26.Nielsen, J. and Sillesen, I. (1975) Incidence of chromosome aberrations among 11 148 newborn children. Hum. Genet., 30, 1–12.
  • 27.Muller, U., Donlon, T., Schmid, M. et al. (1986) Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,46XY and 46,X,dic(Y) females. Nucleic Acids Res., 14, 6489–6505.
  • 28. Page, D.C., Mosher, E., Simpson, E. et al. (1987) The sex determining region of the human Y chromosome encodes a finger protein. Cell, 51, 1091–1104.
  • 29. Ferguson-Smith, M.A., Cook, A., Affara, N.A. et al. (1990) Genotype–phenotype correlation in XX males and the bearing on current theories of sex determination. Hum. Genet., 84, 198–202.
  • 30. Sinclair, A.H. (1998) Human sex determination (review). J. Exp. Zool., 28, 501–505.
  • 31. Van Dyke, D.C., Hansom, J.W., Moor, J.W. et al. (1991) Clinical management issues in males with sex chromosomal mosaicism and discordant phenotype/sex chromosomal patterns. Clin. Pediatr. (Phil.), 30, 15–21.
  • 32. Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet., 34, 119–124.
  • 33. Grumbach, M.M. and Conte, F.A. (1992) Disorders of sex differentiation. In Wilson, J.D. and Foster, D.W. (eds) Williams textbook of endocrinology. Saunders, Philadelphia, pp. 853–951.
  • 34. Vogt, P.H., Edelmann, A., Kirsch, S. et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet., 5, 933–943.
  • 35. Lopez M., Torres, L., Mendez, J.P. et al. (1995) Clinical traits and molecular findings in 46, XX males. Clin. Genet., 48, 29–34.
  • 36. Muller, U., Latt, S.A., Donlon, T. (1987) Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes. Am. J. Med. Genet., 28, 393.
  • 37. Vilain, E., Le Fiblee, B., Morichon-Delvallez, N. et al. (1994) SRY- negative XX fetus with complete male phenotype. Lancet, 343, 240–241.
  • 38. Fechner, P.Y., Marcantonio, S.M., Jaswaney, V. et al. (1990) The role of the sex-determining region Y gene in the aetiology of 46,XX maleness. J. Clin. Endocrinol. Metab., 76, 690–695.
  • 39 .Zenteno, J.C., Lopez, M., Vera, C. et al. (1997) Two SRY-negative XX male brothers without genital ambiguity. Hum. Genet., 100, 606–610
  • 40..Van Niekerk, W.A. and Retief, A.E. (1981) The gonads of human true hermaphrodites. Hum. Genet., 58, 105–116. 41.Ranie J., Robertson M.E., Malcolm, S. et al. (1989) Absence of Y specific DNA sequences in two siblings with 46XX hermaphroditism. Arch. Dis. Child., 64, 1185–1187.
  • 42 .Pereira, E.T., de Almeida, J.C., Gunha, A.C. et al. (1991) Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female. J. Med. Genet., 28, 591–595.
  • 43 .Sadi, A.M., Toda, T., Kiyuna, M. et al. (1996) A true hermaphrodite with bilateral ovotestes: a case report. J. Obstet. Gynaecol. Res., 22, 247–251.
  • 44 .McElreavey, K., Rappaport, R., Vilain, E. et al. (1992) A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum. Genet., 90, 121–125.
  • 45. Abbas, N., McElreavey, K., Leconiat, M. et al. (1993) Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C. R. Acad. Sci. III, 316, 375–383.
  • 46. Copelli, S.B., Bergada, C., Billerbeck, A.E. et al. (1996) Molecular analysis of sex determination in sex-reversed and true hermaphroditism. Braz. J. Med. Biol. Res., 29, 743–748.
  • 47. Ramos, E.S., Moreira-Filho, C.A., Vicente, Y.A. et al. (1997) SRY-negative true hermaphrodites and an XX male in two generations of the same family. Hum. Genet., 97, 596–598.
  • 48. Kojima, Y., Hayashi, Y., Asai, N. et al. (1998) Detection of the sex-determining region of the Y chromosome in 46,XX true hermaphroditism. Urol. Int., 60, 235–238.
  • 49. Binder G, Koch A, Wajs E, Ranke MB. Nested polymerase chain reaction study of 53 cases with Turner’s syndrome: is cytogenetically undetected Y mosaicism common? J Clin Endocrinol Metab 1995; 80(12): 3532-3536
  • 50. Fernandez Garcia R, Garcia Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosaicism. Clin Genet 2000; 58(3): 201-208.
  • 51.. Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, Weill J, Chevalier C, Dumas R, Sultan C. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 1992; 75(5): 1289-1292.

108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey

Year 2017, Volume: 9 Issue: 2, 51 - 60, 01.12.2017

Diclehan Oral Selda Şimşek Hilmi İsi İlyas Yüce

Abstract

The relationship between abnormal chromosomal constitution and sex anomalies has been established since the development of cytogenetic and molecular methods. In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 108 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 108 patients, 49 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, with 45, X/46, XY 46, XXY,46,XX karyotype, In the patients negative for SRY, with 46,XY,46, XX karyotype It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development. . It is also essential for defining genotypic and phenotypic correlation and understanding the basic mechanism involved in sex determination.

Keywords

Chromosome; Sry gene; sex abnormality

References

  • 1. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature. 1990;346:240–244. doi: 10.1038/346240a0.
  • 2. Clépet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell- Badge R, Goodfellow PN. The human SRY transcript. Hum Mol Genet. 1993;2:2007–2012
  • 3. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature. 1991;351:117–121. doi: 10.1038/351117a0
  • 4. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet. 1992;88:471–474. doi: 10.1007/BF00215684.
  • 5. Iida T, Nakahori Y, Komaki R, Mori E, Hayashi N, Tsutsumi O, Taketani Y, Nakagome Y. A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum Mol Genet. 1994;3:1437–1438.
  • 6. Fechner PY, Marcantonio SM, Jaswaney VJ, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD, Amrhein JA, Bard PA. The role of the sex determining region Y gene (SRY) in the etiology of 46,XX maleness. J Clin Endocrinol Metab. 1993;76:690–696.
  • 7. Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, Ruszczynska-Wolska A, Jaruzelska J. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J Med Gene. 1999;36:452–456.
  • 8. Affara NA, Ferguson-Smith MA, Magenis RE, Tolmie JL, Boyd E, Cooke A, Jamieson D, Kwok K, Mitchell M, Snadden L. Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res. 1987;15:7325–7342.
  • 9. Ferguson-Smith MA. X-Y chromosomal interchange in the aetiology of true hermaphrodism and of XX Klinefelter’s syndrome. Lancet. 1966;2:475–6. doi:10.1016/S0140-6736(66)92778-4.
  • 10. Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat Genet. 1994;7:414–9. doi:10.1038/ng0794-414
  • 11. de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981;58:105–16. doi:10.1007/BF00284157.
  • 12. Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, Fellous M. Clinical and anatomical spectrum in XX sex reversed patients: relationship to the presence of Y specific DNA sequences. Clin Endocrinol (Oxf). 1994;40:733–42. doi:10.1111/j.1365-2265.1994.tb02506.x.
  • 13. Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas NA, Fellous M. Genetic evidence that ZFY is not the testis-determining factor. Nature. 1989;342:937–9. doi:10.1038/342937a0.
  • 14.Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, Job JC, Fellous M. A possible common mechanism of “Y-negative” human XX males and XX true hermaphrodites. Hum Genet. 1990;84:356–60. doi:10.1007/BF00196234.
  • 15. Page DC, Brown LG, de la Chapelle A. Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. Nature. 1987;328:437–40. doi:10.1038/328437a0.
  • 16. Ma S, Tang SS, Yuen BH, Bruyere H, Penaherrera M, Robinson WP. Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report. Hum Reprod. 2003;18:2298–301. doi:10.1093/humrep/deg462.
  • 17. Abdelmoula NB, Portnoi MF, Keskes L, Recan D, Bahloul A, Boudawara T, Saad A, Rebai T. Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Ann Genet. 2003;46:11–8. doi:10.1016/S0003-3995(03)00011-X
  • 18. Lopez M, Torres LM, Mendez JP, Cervantes A, Perez-Palacios G, Erickson RP, Alfaro G, Kofman-Alfaro S. Clinical traits and molecular findings in 46,XX males. Clin Genet. 1995;48:29–34
  • 19. Castineyra G, Copelli S, Levalle O. 46,XX male: clinical, hormonal/genetic findings. Arch Androl. 2002;48:251–7.
  • 20. Grigorescu-Sido A, Heinrich U, Grigorescu-Sido P, Jauch A, Hager HD, Vogt PH, Duncea I, Bettendorf M. Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. J Pediatr Endocrinol Metab. 2005;18:197–203.
  • 21. Quiepo G, Zenteno JC, Pena R, Nieto K, Radillo A, Dorantes LM, Erana L, Lieberman E, Soderlund D, Jimenez AL, Ramon G, Kofman-Alfaro S. Molecular analysis in true hermaphroditism: demonstration of low-level mosaicism for Y-derived sequences in 46,XX cases. Hum Genet. 2002;111:278–83. doi:10.1007/s00439-002-0772-9.
  • 22. Numabe H, Nagafuchi S, Nakahori Y, Tamura T, Kiuchi H, Namiki M, Kohda N, Yoshimitsu Fukushima Y, Fuse H, Kusano M, Arai T, Matsuzaki Y, Fukutani K, Isurugi K, Kuroki Y, Ikeuchi T, Yoshida M, Minowada S, Nakagome Y. DNA analysis of XX and XY hypospadic males. Hum Genet. 1990;90:211–4
  • 23.McElreavey K, Salas-Cortes L. X-Y tranlocations and sex differentiation. Semin Reprod Med. 2001;19:133–9. doi:10.1055/s-2001-15393
  • 24. Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, Wolski J, Jacobs P. Variability of sexual phenotype in 46,XX(SRY) patients: the influence of spreading X inactivation versus position effects. J Med Genet. 2005;42:420–7. doi:10.1136/jmg.2004.022053.
  • 25. de la Chapelle, A. (1972) Analytic review: nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet., 24, 71–105.
  • 26.Nielsen, J. and Sillesen, I. (1975) Incidence of chromosome aberrations among 11 148 newborn children. Hum. Genet., 30, 1–12.
  • 27.Muller, U., Donlon, T., Schmid, M. et al. (1986) Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,46XY and 46,X,dic(Y) females. Nucleic Acids Res., 14, 6489–6505.
  • 28. Page, D.C., Mosher, E., Simpson, E. et al. (1987) The sex determining region of the human Y chromosome encodes a finger protein. Cell, 51, 1091–1104.
  • 29. Ferguson-Smith, M.A., Cook, A., Affara, N.A. et al. (1990) Genotype–phenotype correlation in XX males and the bearing on current theories of sex determination. Hum. Genet., 84, 198–202.
  • 30. Sinclair, A.H. (1998) Human sex determination (review). J. Exp. Zool., 28, 501–505.
  • 31. Van Dyke, D.C., Hansom, J.W., Moor, J.W. et al. (1991) Clinical management issues in males with sex chromosomal mosaicism and discordant phenotype/sex chromosomal patterns. Clin. Pediatr. (Phil.), 30, 15–21.
  • 32. Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet., 34, 119–124.
  • 33. Grumbach, M.M. and Conte, F.A. (1992) Disorders of sex differentiation. In Wilson, J.D. and Foster, D.W. (eds) Williams textbook of endocrinology. Saunders, Philadelphia, pp. 853–951.
  • 34. Vogt, P.H., Edelmann, A., Kirsch, S. et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet., 5, 933–943.
  • 35. Lopez M., Torres, L., Mendez, J.P. et al. (1995) Clinical traits and molecular findings in 46, XX males. Clin. Genet., 48, 29–34.
  • 36. Muller, U., Latt, S.A., Donlon, T. (1987) Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes. Am. J. Med. Genet., 28, 393.
  • 37. Vilain, E., Le Fiblee, B., Morichon-Delvallez, N. et al. (1994) SRY- negative XX fetus with complete male phenotype. Lancet, 343, 240–241.
  • 38. Fechner, P.Y., Marcantonio, S.M., Jaswaney, V. et al. (1990) The role of the sex-determining region Y gene in the aetiology of 46,XX maleness. J. Clin. Endocrinol. Metab., 76, 690–695.
  • 39 .Zenteno, J.C., Lopez, M., Vera, C. et al. (1997) Two SRY-negative XX male brothers without genital ambiguity. Hum. Genet., 100, 606–610
  • 40..Van Niekerk, W.A. and Retief, A.E. (1981) The gonads of human true hermaphrodites. Hum. Genet., 58, 105–116. 41.Ranie J., Robertson M.E., Malcolm, S. et al. (1989) Absence of Y specific DNA sequences in two siblings with 46XX hermaphroditism. Arch. Dis. Child., 64, 1185–1187.
  • 42 .Pereira, E.T., de Almeida, J.C., Gunha, A.C. et al. (1991) Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female. J. Med. Genet., 28, 591–595.
  • 43 .Sadi, A.M., Toda, T., Kiyuna, M. et al. (1996) A true hermaphrodite with bilateral ovotestes: a case report. J. Obstet. Gynaecol. Res., 22, 247–251.
  • 44 .McElreavey, K., Rappaport, R., Vilain, E. et al. (1992) A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum. Genet., 90, 121–125.
  • 45. Abbas, N., McElreavey, K., Leconiat, M. et al. (1993) Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C. R. Acad. Sci. III, 316, 375–383.
  • 46. Copelli, S.B., Bergada, C., Billerbeck, A.E. et al. (1996) Molecular analysis of sex determination in sex-reversed and true hermaphroditism. Braz. J. Med. Biol. Res., 29, 743–748.
  • 47. Ramos, E.S., Moreira-Filho, C.A., Vicente, Y.A. et al. (1997) SRY-negative true hermaphrodites and an XX male in two generations of the same family. Hum. Genet., 97, 596–598.
  • 48. Kojima, Y., Hayashi, Y., Asai, N. et al. (1998) Detection of the sex-determining region of the Y chromosome in 46,XX true hermaphroditism. Urol. Int., 60, 235–238.
  • 49. Binder G, Koch A, Wajs E, Ranke MB. Nested polymerase chain reaction study of 53 cases with Turner’s syndrome: is cytogenetically undetected Y mosaicism common? J Clin Endocrinol Metab 1995; 80(12): 3532-3536
  • 50. Fernandez Garcia R, Garcia Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosaicism. Clin Genet 2000; 58(3): 201-208.
  • 51.. Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, Weill J, Chevalier C, Dumas R, Sultan C. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 1992; 75(5): 1289-1292.
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Details

Primary Language English
Subjects ​Internal Diseases
Journal Section Research
Authors

Diclehan Oral

Selda Şimşek This is me

Hilmi İsi This is me

İlyas Yüce

Publication Date December 1, 2017
Published in Issue Year 2017 Volume: 9 Issue: 2

Cite

APA Oral, D., Şimşek, S., İsi, H., Yüce, İ. (2017). 108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey. International Archives of Medical Research, 9(2), 51-60.
AMA Oral D, Şimşek S, İsi H, Yüce İ. 108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey. IAMR. December 2017;9(2):51-60.
Chicago Oral, Diclehan, Selda Şimşek, Hilmi İsi, and İlyas Yüce. “108 Patients With Sex Abnormality; Cytogenetic and Molecular Analysis in Diyarbakır, Turkey”. International Archives of Medical Research 9, no. 2 (December 2017): 51-60.
EndNote Oral D, Şimşek S, İsi H, Yüce İ (December 1, 2017) 108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey. International Archives of Medical Research 9 2 51–60.
IEEE D. Oral, S. Şimşek, H. İsi, and İ. Yüce, “108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey”, IAMR, vol. 9, no. 2, pp. 51–60, 2017.
ISNAD Oral, Diclehan et al. “108 Patients With Sex Abnormality; Cytogenetic and Molecular Analysis in Diyarbakır, Turkey”. International Archives of Medical Research 9/2 (December 2017), 51-60.
JAMA Oral D, Şimşek S, İsi H, Yüce İ. 108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey. IAMR. 2017;9:51–60.
MLA Oral, Diclehan et al. “108 Patients With Sex Abnormality; Cytogenetic and Molecular Analysis in Diyarbakır, Turkey”. International Archives of Medical Research, vol. 9, no. 2, 2017, pp. 51-60.
Vancouver Oral D, Şimşek S, İsi H, Yüce İ. 108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey. IAMR. 2017;9(2):51-60.

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