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Year 2009, Volume: 22 Issue: 3, 217 - 224, 19.06.2015

Abstract

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References

  • 1. Bhasin S, de Kretser DM, Baker HW. Clinical review 64: Pathophysiology and natural history of male infertility. J Clin Endocrinol Metab 1994; 79 : 1525- 1529.
  • 2. Griffin DK, Finch KA. The genetic and cytogenetic basis of male infertility. Hum Fertil (Camb). 2005 Mar;8:19-26
  • 3. Van Assch E, Bonduelle M, Tournaye H, et al. Cytogenetics of infertile men. Hum Reprod 1996;11:1– 26.
  • 4. Hook EB. Chromosomal abnormalities: prevalence, risks and recurrence. In Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingstone 1992; 351- 392.
  • 5. Moorhead PS, Nowell PC, Mellman WJ, et al. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res 1960; 20: 613- 616.
  • 6. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971; 2: 971-972.
  • 7. Shaffer LG, Tommerup N. An International System for Human Cytogenetic Nomenclature. Karger , Farmington. 2005.
  • 8. Vincent MC, Daudin M, De MP, et al. Cytogenetic investigations of mini review: infertile men with low sperm counts: A 25-Year Experience. J Androl 2002;23:18-22.
  • 9. Zuffardi O, Tiepolo, L. Frequencies and types of chromosome abnormalities associated with human male infertility. In: Crosignani PG and B.L. Rubsin BL, eds. Genetic Control of Gamete Production and Function. Serono Clinical Colloquia on Reproduction III. Academic Press and Guine and Stratton, London, UK. 1982; 261-273.
  • 10. Chandley AC. The chromosomal basis of human infertility. Br Med Bull 1979; 35: 181-186.
  • 11. Clementini E, Palka C, Iezzi I, Stuppia L, GuancialiFranchi P, Tiboni GM. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 2005; 20:437-442.
  • 12. Tuerlings JH, de France HF, Hamers A, et al. Chromosome studies in 1792 males prior to intracytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet 1998; 6:194-200.
  • 13. Nakamura Y, Kitamura M, Nishimura K, et al. Chromosomal variants among 1790 infertile men. Int J Urol 2001; 8:49-52.
  • 14. Yoshida A, Tamayama T, Nagao K, et al. A cytogenetic survey of 1007 infertile males. Contracept Fertil Sex 1995; 23: 103a.
  • 15. Koulischer L, Schoysman R. Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients. Clin Genet 1974; 5: 116- 126.
  • 16. Salahshourifar I, Gilani MAS, Masoudi NS, Gourabi H. Chromosomal abnormalities in Iranian infertile males who are candidates for assissted reproductive techniques. IJFS 2007;1: 75-79.
  • 17. Şamlı H, Solak M, İmirzalioğlu N, Şamlı MM. Nonobstruktif azoospermik ve siddetli oligozoospermik erkeklerde saptanan kromozomal anomaliler. Kocatepe Tıp Dergisi 2005; 6:7-11.
  • 18. Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S,Naguib KK. Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Andrologia 2007;39:87–92.
  • 19. Akgul M, Ozkinay F, Ercal D, et al. Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review. J Assist Reprod Genet 2009; 26:119–122.
  • 20. Vutyavanich T, Piromlertamorn W, Sirirungsi W, Sirisukkasem S. Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia. Asian J Androl 2007;9:68–75.
  • 21. Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosomal studies in infertile men with oligozoospermia and non-obstructive azoospermia. Indian J Med Res 2005;122:34–42.
  • 22. Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J Assist Reprod Genet 2008; 25:559– 565.
  • 23. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 2005; 90: 152–156.
  • 24. El-Dahtory F, Elsheikha HM. Male infertility related to an aberrant karyotype, 47,XYY: four case reports. Cases J 2009 8;2: 28.
  • 25. Hackstein JH, Hochstenbach R and Pearson PL. Towards an understanding of the genetics of human male infertility: lessons from flies. Trends Genet 2000; 16: 565-572.
  • 26. Pandiyan N, Jequier AM. Mitotic chromosomal anomalies among 1210 infertile men. Hum Reprod 1996; 11:2604–2608.
  • 27. Vicdan A, Vicdan K, Gunalp S, et al. Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. Eur J Obstet Gynecol Reprod Biol 2004; 117: 49–54.
  • 28. Hellani A, Al-Hassan S, Iqbal M, Coskun S. Y chromosome microdeletions in infertile men with idiopathic oligo-or azoospermia. J Exp Clin Assist Reprod 2006; 30:1–6.
  • 29. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008; 14:379–390.
  • 30. Gabriel-Robez O, Ratomponirina C, Dutrillaux B, Carre-Pigeon F, Rumpler Y. Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21). Cytogenet Cell Genet 1986;43:154–160.
  • 31. Guichaoua MR, Quack B, Speed RM, Noel B, Chandley AC, Luciani JM. Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet 1990;86: 162– 166.
  • 32. Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L. Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia. Yi Chuan Xue Bao 2006; 33:111–116.
  • 33. Bache I, Van Assche E, Cingoz S, et al. An excess of chromosome 1 breakpoints in male infertility. Eur J Med Genet. 2004;12:993–1000.
  • 34. Brothman AR, Schneider NR, Saikevych I, et al. Cytogenetics Resource Committee, College of American Pathologists/American College of Medical Genetics. Cytogenetic heteromorphisms: Survey results and reporting practices of Giemsa-band regions that we have pondered for years. Arch Pathol Lab Med 2006;130:947–949.
  • 35. Cortés-Gutiérrez EI, Cerda-Flores RM, DávilaRodríguez MI, Hernández-Herrera R, Vargas-Villarreal J, Leal-Garza CH. Chromosomal abnormalities and polymorphisms in Mexican infertile men. Arch Androl 2004;50:261–265.
  • 36. Nakamura Y, Kitamura M, Nishimura K, et al. Chromosomal variants among 1790 infertile men. Int J Urol 2001;8:49–52.
  • 37. Yakin K, Balaban B, Urman B. Is there a possible correlation between chromosomal variants and spermatogenesis? Int J Urol 2005;12:984–989.
  • 38. Sahin FI, Yilmaz Z, Yuregir OO, Bulakbasi T, Ozer O, Zeyneloglu HB. Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet 2008; 25:191–195.
  • 39. Abramsson L, Beckman G, Duchek M, Nordenson I. Chromosomal aberrations and male infertility. J Urol 1982; 128 : 52-53.
  • 40. Retief AE, Van Zyl JA, Menkveld R, Fox MR, Kotze GM, Brusnicky J. Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet 1984; 66 : 162-164.
  • 41. Rao BV, Kerketta L, Korgaonkar S, Ghosh K Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases. Indian J Hum Genet 2006; 12: 129-132.
  • 42. Shah K, Sivapalan G, Gibbons N, Tempest H, Griffin DK. The genetic basis of infertility. Reproduction 2003;126:13-25.

SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER

Year 2009, Volume: 22 Issue: 3, 217 - 224, 19.06.2015

Abstract

Amaç: Erkek infertilitesi çocuk sahibi olamayan çiftlerin yarısından sorumludur. Kromozomal
abnormaliteler fertil erkeklerle karşılaştırıldığında infertil erkeklerde daha sıktır. Kromozomal anomalilerin
spermotogenezde başarısızlığa neden olarak erkek infertilitesine neden olduğu bilinmektedir. Çalışmada
sperm anomalisi gösteren infertil erkeklerde major kromozomal anomalilerin tipleri ve sıklığının
araştırılması amaçlanmıştır.
Gereç ve Yöntem: Toplam 214 (138 azospermik, 76 oligospermik) infertil erkek bireye sitogenetik
inceleme yapıldı. Tüm hastaların periferik kan lenfositlerinin kromozomal analizleri sdandart yöntemlere
göre yapıldı.
Bulgular: Toplam 214 infertil erkeğin 24 (%11.2)’ünde klinifelter sendromu (16/24; %7.5), XYY sendromu
(1/24; %0.5), XX erkek sendromu (1/24; %0.5), 45,X, mar (Y) (1/24; %0.5), 46,XX, inv(Y)(p11q11) (1/24;
%0.5), 46,XY, der(1)t(1;5)(p33;qter) (1/24; %0.5), 46,XY, t(15;15) (1/24; %0.5) ve 46,XY,t(14;21) (1/24;
%0.5) kromozomal anomalileri tespit edildi.
Sonuçlar: Bu çalışma infertil erkeklerde kromozomal anomalilerin sıklığı %11.2 olduğunu göstermektedir.
Bu genetik bozuklukların yeni nesillere aktarılmasındaki potansiyel risk infertil erkeklerin ICSI’dan önce
taranması için bir sebep oluşturmaktadır. Ayrıca, genetik tarama ve danışmanın infertil hastalara rutin olarak
yapılması gerekmektedir.

References

  • 1. Bhasin S, de Kretser DM, Baker HW. Clinical review 64: Pathophysiology and natural history of male infertility. J Clin Endocrinol Metab 1994; 79 : 1525- 1529.
  • 2. Griffin DK, Finch KA. The genetic and cytogenetic basis of male infertility. Hum Fertil (Camb). 2005 Mar;8:19-26
  • 3. Van Assch E, Bonduelle M, Tournaye H, et al. Cytogenetics of infertile men. Hum Reprod 1996;11:1– 26.
  • 4. Hook EB. Chromosomal abnormalities: prevalence, risks and recurrence. In Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingstone 1992; 351- 392.
  • 5. Moorhead PS, Nowell PC, Mellman WJ, et al. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res 1960; 20: 613- 616.
  • 6. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971; 2: 971-972.
  • 7. Shaffer LG, Tommerup N. An International System for Human Cytogenetic Nomenclature. Karger , Farmington. 2005.
  • 8. Vincent MC, Daudin M, De MP, et al. Cytogenetic investigations of mini review: infertile men with low sperm counts: A 25-Year Experience. J Androl 2002;23:18-22.
  • 9. Zuffardi O, Tiepolo, L. Frequencies and types of chromosome abnormalities associated with human male infertility. In: Crosignani PG and B.L. Rubsin BL, eds. Genetic Control of Gamete Production and Function. Serono Clinical Colloquia on Reproduction III. Academic Press and Guine and Stratton, London, UK. 1982; 261-273.
  • 10. Chandley AC. The chromosomal basis of human infertility. Br Med Bull 1979; 35: 181-186.
  • 11. Clementini E, Palka C, Iezzi I, Stuppia L, GuancialiFranchi P, Tiboni GM. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 2005; 20:437-442.
  • 12. Tuerlings JH, de France HF, Hamers A, et al. Chromosome studies in 1792 males prior to intracytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet 1998; 6:194-200.
  • 13. Nakamura Y, Kitamura M, Nishimura K, et al. Chromosomal variants among 1790 infertile men. Int J Urol 2001; 8:49-52.
  • 14. Yoshida A, Tamayama T, Nagao K, et al. A cytogenetic survey of 1007 infertile males. Contracept Fertil Sex 1995; 23: 103a.
  • 15. Koulischer L, Schoysman R. Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients. Clin Genet 1974; 5: 116- 126.
  • 16. Salahshourifar I, Gilani MAS, Masoudi NS, Gourabi H. Chromosomal abnormalities in Iranian infertile males who are candidates for assissted reproductive techniques. IJFS 2007;1: 75-79.
  • 17. Şamlı H, Solak M, İmirzalioğlu N, Şamlı MM. Nonobstruktif azoospermik ve siddetli oligozoospermik erkeklerde saptanan kromozomal anomaliler. Kocatepe Tıp Dergisi 2005; 6:7-11.
  • 18. Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S,Naguib KK. Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Andrologia 2007;39:87–92.
  • 19. Akgul M, Ozkinay F, Ercal D, et al. Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review. J Assist Reprod Genet 2009; 26:119–122.
  • 20. Vutyavanich T, Piromlertamorn W, Sirirungsi W, Sirisukkasem S. Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia. Asian J Androl 2007;9:68–75.
  • 21. Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosomal studies in infertile men with oligozoospermia and non-obstructive azoospermia. Indian J Med Res 2005;122:34–42.
  • 22. Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J Assist Reprod Genet 2008; 25:559– 565.
  • 23. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 2005; 90: 152–156.
  • 24. El-Dahtory F, Elsheikha HM. Male infertility related to an aberrant karyotype, 47,XYY: four case reports. Cases J 2009 8;2: 28.
  • 25. Hackstein JH, Hochstenbach R and Pearson PL. Towards an understanding of the genetics of human male infertility: lessons from flies. Trends Genet 2000; 16: 565-572.
  • 26. Pandiyan N, Jequier AM. Mitotic chromosomal anomalies among 1210 infertile men. Hum Reprod 1996; 11:2604–2608.
  • 27. Vicdan A, Vicdan K, Gunalp S, et al. Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. Eur J Obstet Gynecol Reprod Biol 2004; 117: 49–54.
  • 28. Hellani A, Al-Hassan S, Iqbal M, Coskun S. Y chromosome microdeletions in infertile men with idiopathic oligo-or azoospermia. J Exp Clin Assist Reprod 2006; 30:1–6.
  • 29. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008; 14:379–390.
  • 30. Gabriel-Robez O, Ratomponirina C, Dutrillaux B, Carre-Pigeon F, Rumpler Y. Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21). Cytogenet Cell Genet 1986;43:154–160.
  • 31. Guichaoua MR, Quack B, Speed RM, Noel B, Chandley AC, Luciani JM. Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet 1990;86: 162– 166.
  • 32. Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L. Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia. Yi Chuan Xue Bao 2006; 33:111–116.
  • 33. Bache I, Van Assche E, Cingoz S, et al. An excess of chromosome 1 breakpoints in male infertility. Eur J Med Genet. 2004;12:993–1000.
  • 34. Brothman AR, Schneider NR, Saikevych I, et al. Cytogenetics Resource Committee, College of American Pathologists/American College of Medical Genetics. Cytogenetic heteromorphisms: Survey results and reporting practices of Giemsa-band regions that we have pondered for years. Arch Pathol Lab Med 2006;130:947–949.
  • 35. Cortés-Gutiérrez EI, Cerda-Flores RM, DávilaRodríguez MI, Hernández-Herrera R, Vargas-Villarreal J, Leal-Garza CH. Chromosomal abnormalities and polymorphisms in Mexican infertile men. Arch Androl 2004;50:261–265.
  • 36. Nakamura Y, Kitamura M, Nishimura K, et al. Chromosomal variants among 1790 infertile men. Int J Urol 2001;8:49–52.
  • 37. Yakin K, Balaban B, Urman B. Is there a possible correlation between chromosomal variants and spermatogenesis? Int J Urol 2005;12:984–989.
  • 38. Sahin FI, Yilmaz Z, Yuregir OO, Bulakbasi T, Ozer O, Zeyneloglu HB. Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet 2008; 25:191–195.
  • 39. Abramsson L, Beckman G, Duchek M, Nordenson I. Chromosomal aberrations and male infertility. J Urol 1982; 128 : 52-53.
  • 40. Retief AE, Van Zyl JA, Menkveld R, Fox MR, Kotze GM, Brusnicky J. Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet 1984; 66 : 162-164.
  • 41. Rao BV, Kerketta L, Korgaonkar S, Ghosh K Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases. Indian J Hum Genet 2006; 12: 129-132.
  • 42. Shah K, Sivapalan G, Gibbons N, Tempest H, Griffin DK. The genetic basis of infertility. Reproduction 2003;126:13-25.
There are 42 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Ebru Önalan Etem

Hüseyin Yüce This is me

Deniz Erol This is me

Şükriye Deveci This is me

Gülay Güleç Ceylan This is me

Halit Elyas This is me

Publication Date June 19, 2015
Published in Issue Year 2009 Volume: 22 Issue: 3

Cite

APA Önalan Etem, E., Yüce, H., Erol, D., Deveci, Ş., et al. (2015). SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER. Marmara Medical Journal, 22(3), 217-224.
AMA Önalan Etem E, Yüce H, Erol D, Deveci Ş, Güleç Ceylan G, Elyas H. SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER. Marmara Med J. August 2015;22(3):217-224.
Chicago Önalan Etem, Ebru, Hüseyin Yüce, Deniz Erol, Şükriye Deveci, Gülay Güleç Ceylan, and Halit Elyas. “SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER”. Marmara Medical Journal 22, no. 3 (August 2015): 217-24.
EndNote Önalan Etem E, Yüce H, Erol D, Deveci Ş, Güleç Ceylan G, Elyas H (August 1, 2015) SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER. Marmara Medical Journal 22 3 217–224.
IEEE E. Önalan Etem, H. Yüce, D. Erol, Ş. Deveci, G. Güleç Ceylan, and H. Elyas, “SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER”, Marmara Med J, vol. 22, no. 3, pp. 217–224, 2015.
ISNAD Önalan Etem, Ebru et al. “SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER”. Marmara Medical Journal 22/3 (August 2015), 217-224.
JAMA Önalan Etem E, Yüce H, Erol D, Deveci Ş, Güleç Ceylan G, Elyas H. SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER. Marmara Med J. 2015;22:217–224.
MLA Önalan Etem, Ebru et al. “SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER”. Marmara Medical Journal, vol. 22, no. 3, 2015, pp. 217-24.
Vancouver Önalan Etem E, Yüce H, Erol D, Deveci Ş, Güleç Ceylan G, Elyas H. SPERM ANOMALİSİ GÖSTEREN ERKEKLERDE SİTOGENETİK ANALİZLER. Marmara Med J. 2015;22(3):217-24.