Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients

Cüneyd Yavaş; Mustafa Doğan; Recep Eröz; Halil Lütfi Canat

doi:10.18521/ktd.1299776

Araştırma Makalesi

Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients

Yıl 2023, Cilt: 15 Sayı: 3, 383 - 389, 20.10.2023

Cüneyd Yavaş Mustafa Doğan Recep Eröz Halil Lütfi Canat

https://doi.org/10.18521/ktd.1299776

Öz

Objective: Genetic testing for male infertility is rarely performed in our country. Male infertility is caused by chromosome number or structural problems, Y chromosome deletions and gene alterations. Infertility is a problem seen in 15% of couples. Genetic causes are responsible for the etiology of 3-10% of those diagnosed with male infertility due to oligozoospermia and azoospermia. In this retrospective study, we aimed to determine both the chromosomal structure and the microdeletion of the azoospermic factor (AZF) region on the Y chromosome in infertile men admitted to our center before the application of assisted reproductive techniques.
Method: We studied 327 patients who applied to our laboratory for routine analysis. Chromosome analysis was performed from peripheral blood by conventional cytogenetic method. DNA was isolated from peripheral blood and Y chromosome microdeletion was analyzed by fragment analysis method with Y chromosome microdeletion detection kit.
Results: Out of 327 patients, 32 had cytogenetic and 18 had molecular abnormalities and 4 had both cytogenetic and molecular abnormalities. Numerical and structural anomalies were detected in patients with anomalous karyotype. Among the patients with Y microdeletions, 1 patient had AZFa, 2 patient had AZFb, 6 patients had AZFc, 3 patients had AZFc+d, 2 patients had AZFb+c+d, 1 patient had AZFb+c+sY160, 1 patient had AZFa+b+d+c+sY90, and 2 patient had AZFb+d+c+sY90.
Conclusion: Our study shows that chromosomal abnormalities and Y chromosome microdeletions are important causes of male infertility and that chromosome analysis and Y chromosome microdeletion tests should be performed to explain these abnormalities. It also emphasizes the importance of genetic counseling in explaining male infertility.

Anahtar Kelimeler

Male infertility, chromosomal abnormality, Y chromosome microdeletion

Kaynakça

1. Bolu S, Eroz R, Arslanoglu I, Dogan M. The relationship between phenotypical findings and different karyotypes in children with turner syndrome. Annals of Medical Research. 2021;28(5):912-17.
2. Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A. Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. Genetic counseling. 2013;24(3):307.
3. Damar İH, Recep E, Kiliçaslan Ö. Frequency of hereditary prothrombotic risk factors in patients with Down Syndrome. Konuralp Medical Journal. 2021;13(1):89-93.
4. Dogan M, Eroz R, Bolu S, Yuce H. Evaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometric. Konuralp Medical Journal. 2018;10(2):248-52.
5. Dogan M, Eroz R, Bolu S, Yuce H, Gun E. A Boy with Short Stature, Unusual Findings and Low Percentage of 45, x (4%)/46, xy (96%) Mosaicism. Genetic Counseling. 2016;27(2):269-72.
6. Doğan M, Gezdirici A, Yavaş C, Recep E. Tekrarlayan gebelik kayıpları nedeniyle çalışılan 306 çiftin kromozom analizi ve trombofili parametrelerinin değerlendirilmesi: tek merkez deneyimi. Sağlık Bilimlerinde Değer. 2022;12(2):280-85.
7. Gezdirici A, Işık Ü, Recep E, Güleç EYA, İbrahim Orkunt, Çiçek G. Erkek İnfertilitesi ile Başvuran Hastalarda Spermiogram, Hormonal Profil ve Genetik Analiz Sonuçlarının Karşılaştırmalı Analizi: Tek Merkez Deneyimi. Sağlık Bilimlerinde Değer. 2022;12(1):15-21.
8. Karatas A, Eroz R, Albayrak M, Ozlu T, Cakmak B, Keskin F. Evaluation of chromosomal abnormalities and common trombophilic mutations in cases with recurrent miscarriage. Afr Health Sci. 2014;14(1):216-22.
9. Recep E, Köksal M, Doğan M, Hüseyin Y, Başbuğ A. 45, X [75]/46, Xdel (X)(p11. 2)[25] Karyotipine sahip unikornuat uteruslu olgu. Ahi Evran Medical Journal. 3(1):31-33.
10. Turay S, Eroz R, Karagun E. Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21. 32 Chromosomal Regions. Journal of the College of Physicians and Surgeons--Pakistan: JCPSP. 2022;32(6):808-10.
11. Türay S, Recep E, Habiloğlu E, Sav NM. The Relationship Between Clinical Phenotypes and Chromosomal Microdeletions/Duplications in Pediatric Neurology. Duzce Medical Journal. 2021;23(1):97-109.
12. Barış S, Yavaş C, Balasar Ö, Gördü Z, Doğan M, Recep E. Batı Ege Bölgesinde α-Talasemi Genotipleri ve α-Talasemi Genotip Frekansı. Sağlık Bilimlerinde Değer. 2023;13(2):257-62.
13. Gezdirici A, Gökpınar İli E, Değirmenci B, Aydın Gümüş A, Özdemir G, Erman NA, et al. Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. Acta Oncologica Turcica. 2021;54(3):264-72.
14. Yavaş C, Ün C, Çelebi E, Gezdirici A, Doğan M, İli EG, et al. Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome. Revista da Associação Médica Brasileira. 2022;68(1282-87.
15. Klami R, Mankonen H, Perheentupa A. Successful microdissection testicular sperm extraction for men with non-obstructive azoospermia. Reprod Biol. 2018;18(2):137-42.
16. Liu T, Song YX, Jiang YM. Early detection of Y chromosome microdeletions in infertile men is helpful to guide clinical reproductive treatments in southwest of China. Medicine (Baltimore). 2019;98(5):e14350. 17. Naasse Y, Charoute H, El Houate B, Elbekkay C, Razoki L, Malki A, et al. Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco. BMC Urol. 2015;15(95. 18. Colaco S, Modi D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol. 2018;16(1):14.
19. Ambulkar PS, Sigh R, Reddy M, Varma PS, Gupta DO, Shende MR, et al. Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population. J Clin Diagn Res. 2014;8(3):88-91.
20. Balasar Ö, Balasar M, Gürbüz R. Erkek infertilitesine genetik yaklaşım. The New Journal of Urology. 2016;11(2):69-75.
21. Krausz C, Hoefsloot L, Simoni M, Tuttelmann F, European Academy of A, European Molecular Genetics Quality N. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014;2(1):5-19.
22. Goncalves C, Cunha M, Rocha E, Fernandes S, Silva J, Ferraz L, et al. Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia. Asian J Androl. 2017;19(3):338-45.
23. Xi Q, Zhang Z, Wang R, Li L, Li L, Zhu H, et al. Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions. Medicine (Baltimore). 2019;98(41):e17407.
24. Maduro MR, Lamb DJ. Understanding new genetics of male infertility. J Urol. 2002;168(5):2197-205.
25. Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology. 2011;77(3):598-601.
26. Li X, Li X, Sun Y, Han J, Ma H, Sun Y. Effect of Y Chromosome Microdeletions on the Pregnancy Outcome of Assisted Reproduction Technology: a Meta-analysis. Reprod Sci. 2021;28(9):2413-21.
27. Colaco S, Modi D. Consequences of Y chromosome microdeletions beyond male infertility. J Assist Reprod Genet. 2019;36(7):1329-37.
28. Liu XG, Hu HY, Guo YH, Sun YP. Correlation between Y chromosome microdeletion and male infertility. Genet Mol Res. 2016;15(2):
29. Yousefi-Razin E, Nasiri MJ, Omrani MD. Frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia: A Meta-analysis. Journal of Reproduction & Infertility. 2016;17(4):208.
30. Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clin Biochem. 2018;62(2-10. 31. Olesen IA, Andersson AM, Aksglaede L, Skakkebaek NE, Rajpert-de Meyts E, Joergensen N, et al. Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility. Fertil Steril. 2017;107(1):74-82 e7.
32. Esteves SC, Agarwal A. Novel concepts in male infertility. Int Braz J Urol. 2011;37(1):5-15.
33. Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Hum Reprod Update. 2021;28(1):15-29.
34. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod. 2000;15(7):1431-4.
35. Ma K, Mallidis C, Bhasin S. The role of Y chromosome deletions in male infertility. Eur J Endocrinol. 2000;142(5):418-30.
36. Nailwal M, Chauhan JB. Azoospermia Factor C Subregion of the Y Chromosome. J Hum Reprod Sci. 2017;10(4):256-60.
37. Huang IS, Fantus RJ, Chen WJ, Wren J, Kao WT, Huang EY, et al. Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction? BMC Urol. 2020;20(1):21.
38. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004. International journal of andrology. 2004;27(4):240-49.
39. Gallego A, Rogel R, Lujan S, Plaza B, Delgado F, Boronat F. AZF gene microdeletions: case series and literature review. Actas Urol Esp. 2014;38(10):698-702.
40. Dos Santos Godoy GC, Galera BB, Araujo C, Barbosa JS, de Pinho MF, Galera MF, et al. The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients. Clin Med Insights Reprod Health. 2014;8(51-7.
41. Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J. 2009;50(4):336-47.
42. Arumugam M, Shetty DP, Kadandale JS, Kumari SN. Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study. Int J Reprod Biomed. 2021;19(2):147-56.
43. Samango-Sprouse CA, Counts DR, Tran SL, Lasutschinkow PC, Porter GF, Gropman AL. Update on the clinical perspectives and care of the child with 47, XXY (Klinefelter Syndrome). The application of clinical genetics. 2019;191-202.
44. Hanna ES, Cheetham T, Fearon K, Herbrand C, Hudson N, McEleny K, et al. The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature. Front Endocrinol (Lausanne). 2019;10(825.
45. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, et al. Advances in the interdisciplinary care of children with Klinefelter syndrome. Advances in pediatrics. 2016;63(1):15-46.
46. Kido T, Lau YF. Roles of the Y chromosome genes in human cancers. Asian J Androl. 2015;17(3):373-80.
47. Wang Y, Li S, Wang W, Dong Y, Zhang M, Wang X, et al. Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma. Mol Cytogenet. 2020;13(10.
48. Li HG, Huang SY, Zhou H, Liao AH, Xiong CL. Quick recovery and characterization of cell-free DNA in seminal plasma of normozoospermia and azoospermia: implications for non-invasive genetic utilities. Asian J Androl. 2009;11(6):703-9.

İnfertil Erkek Hastalarda Y Kromozomu Mikrodelesyon ve Kromozom Analizi Sonuçlarının Değerlendirilmesi

Yıl 2023, Cilt: 15 Sayı: 3, 383 - 389, 20.10.2023

Cüneyd Yavaş Mustafa Doğan Recep Eröz Halil Lütfi Canat

https://doi.org/10.18521/ktd.1299776

Öz

Amaç: Ülkemizde erkek infertilitesi için genetik testler nadiren yapılmaktadır. Erkek infertilitesine kromozom sayısı veya yapısal sorunlar, Y kromozomu delesyonları ve gen değişiklikleri neden olmaktadır. İnfertilite çiftlerin %15’inde görülen bir problemdir. Oligozoospermi ve azoospermi kaynaklı erkek infertilitesi tanısı alanların %3-10’unun etiyolojisinde genetik nedenler sorumludur. Bu retrospektif çalışmada, merkezimize başvuran infertil erkeklerde yardımcı üreme teknikleri uygulanmadan önce hem kromozomal yapının belirlenmesi hem de Y kromozomu üzerindeki azoospermik faktör (AZF) bölgesinin mikrodelesyonunun belirlenmesi amaçlanmıştır.
Gereç ve yöntem: Laboratuvarımıza rutin analizler için başvuran 327 hasta çalışıldı. Bu hastalardan konvansiyonel sitogenetik yöntemle periferik kandan kromozom analizi yapıldı. Periferik kandan DNA izolasyonu yapılarak Y kromozom mikrodelesyon belirleme kiti ile fragman analizi yöntemi ile Y kromozomu mikrodelesyonu araştırıldı.
Bulgular: 327 hastanın 32’sinde sitogenetik ve 18’inde moleküler, 4’ünde hem sitogenetik hem moleküler düzeyde anomali belirlendi. Anomalili karyotipe sahip hastalarda sayısal ve yapısal anomaliler saptandı. Y mikrodelesyon belirlenen hastaların 1’inde AZFa, 2 hastada AZFb, 6 hastada AZFc, 3 hastada AZFc+d, 2 hastada AZFb+c+d, 1 hastada AZFb+c+sY160, 1 hastada AZFa+b+d+c+sY90, 2 hastada AZFb+d+c+sY90 bölgelerinde mikrodelesyon saptandı.
Sonuç: Çalışmamız kromozom anomalilerinin ve Y kromozomu mikrodelesyonunun erkek infertilitesinin önemli bir nedeni olduğunu ve açıklanmasında kromozom analizi ve Y kromozomu mikrodelesyon testlerinin yapılmasının gerekliliği gösterilmektedir. Ayrıca, erkek kaynaklı infertilitenin açıklanmasında genetik danışmanlık vermenin önemini vurgulamaktadır.

Anahtar Kelimeler

Erkek infertilitesi, kromozomal anomali, Y kromozom mikrodelesyonu

Kaynakça

1. Bolu S, Eroz R, Arslanoglu I, Dogan M. The relationship between phenotypical findings and different karyotypes in children with turner syndrome. Annals of Medical Research. 2021;28(5):912-17.
2. Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A. Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. Genetic counseling. 2013;24(3):307.
3. Damar İH, Recep E, Kiliçaslan Ö. Frequency of hereditary prothrombotic risk factors in patients with Down Syndrome. Konuralp Medical Journal. 2021;13(1):89-93.
4. Dogan M, Eroz R, Bolu S, Yuce H. Evaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometric. Konuralp Medical Journal. 2018;10(2):248-52.
5. Dogan M, Eroz R, Bolu S, Yuce H, Gun E. A Boy with Short Stature, Unusual Findings and Low Percentage of 45, x (4%)/46, xy (96%) Mosaicism. Genetic Counseling. 2016;27(2):269-72.
6. Doğan M, Gezdirici A, Yavaş C, Recep E. Tekrarlayan gebelik kayıpları nedeniyle çalışılan 306 çiftin kromozom analizi ve trombofili parametrelerinin değerlendirilmesi: tek merkez deneyimi. Sağlık Bilimlerinde Değer. 2022;12(2):280-85.
7. Gezdirici A, Işık Ü, Recep E, Güleç EYA, İbrahim Orkunt, Çiçek G. Erkek İnfertilitesi ile Başvuran Hastalarda Spermiogram, Hormonal Profil ve Genetik Analiz Sonuçlarının Karşılaştırmalı Analizi: Tek Merkez Deneyimi. Sağlık Bilimlerinde Değer. 2022;12(1):15-21.
8. Karatas A, Eroz R, Albayrak M, Ozlu T, Cakmak B, Keskin F. Evaluation of chromosomal abnormalities and common trombophilic mutations in cases with recurrent miscarriage. Afr Health Sci. 2014;14(1):216-22.
9. Recep E, Köksal M, Doğan M, Hüseyin Y, Başbuğ A. 45, X [75]/46, Xdel (X)(p11. 2)[25] Karyotipine sahip unikornuat uteruslu olgu. Ahi Evran Medical Journal. 3(1):31-33.
10. Turay S, Eroz R, Karagun E. Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21. 32 Chromosomal Regions. Journal of the College of Physicians and Surgeons--Pakistan: JCPSP. 2022;32(6):808-10.
11. Türay S, Recep E, Habiloğlu E, Sav NM. The Relationship Between Clinical Phenotypes and Chromosomal Microdeletions/Duplications in Pediatric Neurology. Duzce Medical Journal. 2021;23(1):97-109.
12. Barış S, Yavaş C, Balasar Ö, Gördü Z, Doğan M, Recep E. Batı Ege Bölgesinde α-Talasemi Genotipleri ve α-Talasemi Genotip Frekansı. Sağlık Bilimlerinde Değer. 2023;13(2):257-62.
13. Gezdirici A, Gökpınar İli E, Değirmenci B, Aydın Gümüş A, Özdemir G, Erman NA, et al. Hereditary Breast-Ovarian Cancer and BRCA1/BRCA2 Variants: A Single Center Experience. Acta Oncologica Turcica. 2021;54(3):264-72.
14. Yavaş C, Ün C, Çelebi E, Gezdirici A, Doğan M, İli EG, et al. Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome. Revista da Associação Médica Brasileira. 2022;68(1282-87.
15. Klami R, Mankonen H, Perheentupa A. Successful microdissection testicular sperm extraction for men with non-obstructive azoospermia. Reprod Biol. 2018;18(2):137-42.
16. Liu T, Song YX, Jiang YM. Early detection of Y chromosome microdeletions in infertile men is helpful to guide clinical reproductive treatments in southwest of China. Medicine (Baltimore). 2019;98(5):e14350. 17. Naasse Y, Charoute H, El Houate B, Elbekkay C, Razoki L, Malki A, et al. Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco. BMC Urol. 2015;15(95. 18. Colaco S, Modi D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol. 2018;16(1):14.
19. Ambulkar PS, Sigh R, Reddy M, Varma PS, Gupta DO, Shende MR, et al. Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population. J Clin Diagn Res. 2014;8(3):88-91.
20. Balasar Ö, Balasar M, Gürbüz R. Erkek infertilitesine genetik yaklaşım. The New Journal of Urology. 2016;11(2):69-75.
21. Krausz C, Hoefsloot L, Simoni M, Tuttelmann F, European Academy of A, European Molecular Genetics Quality N. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014;2(1):5-19.
22. Goncalves C, Cunha M, Rocha E, Fernandes S, Silva J, Ferraz L, et al. Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia. Asian J Androl. 2017;19(3):338-45.
23. Xi Q, Zhang Z, Wang R, Li L, Li L, Zhu H, et al. Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions. Medicine (Baltimore). 2019;98(41):e17407.
24. Maduro MR, Lamb DJ. Understanding new genetics of male infertility. J Urol. 2002;168(5):2197-205.
25. Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology. 2011;77(3):598-601.
26. Li X, Li X, Sun Y, Han J, Ma H, Sun Y. Effect of Y Chromosome Microdeletions on the Pregnancy Outcome of Assisted Reproduction Technology: a Meta-analysis. Reprod Sci. 2021;28(9):2413-21.
27. Colaco S, Modi D. Consequences of Y chromosome microdeletions beyond male infertility. J Assist Reprod Genet. 2019;36(7):1329-37.
28. Liu XG, Hu HY, Guo YH, Sun YP. Correlation between Y chromosome microdeletion and male infertility. Genet Mol Res. 2016;15(2):
29. Yousefi-Razin E, Nasiri MJ, Omrani MD. Frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia: A Meta-analysis. Journal of Reproduction & Infertility. 2016;17(4):208.
30. Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clin Biochem. 2018;62(2-10. 31. Olesen IA, Andersson AM, Aksglaede L, Skakkebaek NE, Rajpert-de Meyts E, Joergensen N, et al. Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility. Fertil Steril. 2017;107(1):74-82 e7.
32. Esteves SC, Agarwal A. Novel concepts in male infertility. Int Braz J Urol. 2011;37(1):5-15.
33. Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Hum Reprod Update. 2021;28(1):15-29.
34. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod. 2000;15(7):1431-4.
35. Ma K, Mallidis C, Bhasin S. The role of Y chromosome deletions in male infertility. Eur J Endocrinol. 2000;142(5):418-30.
36. Nailwal M, Chauhan JB. Azoospermia Factor C Subregion of the Y Chromosome. J Hum Reprod Sci. 2017;10(4):256-60.
37. Huang IS, Fantus RJ, Chen WJ, Wren J, Kao WT, Huang EY, et al. Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction? BMC Urol. 2020;20(1):21.
38. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004. International journal of andrology. 2004;27(4):240-49.
39. Gallego A, Rogel R, Lujan S, Plaza B, Delgado F, Boronat F. AZF gene microdeletions: case series and literature review. Actas Urol Esp. 2014;38(10):698-702.
40. Dos Santos Godoy GC, Galera BB, Araujo C, Barbosa JS, de Pinho MF, Galera MF, et al. The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients. Clin Med Insights Reprod Health. 2014;8(51-7.
41. Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J. 2009;50(4):336-47.
42. Arumugam M, Shetty DP, Kadandale JS, Kumari SN. Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study. Int J Reprod Biomed. 2021;19(2):147-56.
43. Samango-Sprouse CA, Counts DR, Tran SL, Lasutschinkow PC, Porter GF, Gropman AL. Update on the clinical perspectives and care of the child with 47, XXY (Klinefelter Syndrome). The application of clinical genetics. 2019;191-202.
44. Hanna ES, Cheetham T, Fearon K, Herbrand C, Hudson N, McEleny K, et al. The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature. Front Endocrinol (Lausanne). 2019;10(825.
45. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, et al. Advances in the interdisciplinary care of children with Klinefelter syndrome. Advances in pediatrics. 2016;63(1):15-46.
46. Kido T, Lau YF. Roles of the Y chromosome genes in human cancers. Asian J Androl. 2015;17(3):373-80.
47. Wang Y, Li S, Wang W, Dong Y, Zhang M, Wang X, et al. Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma. Mol Cytogenet. 2020;13(10.
48. Li HG, Huang SY, Zhou H, Liao AH, Xiong CL. Quick recovery and characterization of cell-free DNA in seminal plasma of normozoospermia and azoospermia: implications for non-invasive genetic utilities. Asian J Androl. 2009;11(6):703-9.

Toplam 45 adet kaynakça vardır.

Ayrıntılar

Birincil Dil	İngilizce
Konular	Sağlık Kurumları Yönetimi
Bölüm	Makaleler
Yazarlar	Cüneyd Yavaş 0000-0002-1597-5922 Mustafa Doğan 0000-0003-0464-6565 Recep Eröz 0000-0003-0840-2613 Halil Lütfi Canat 0000-0001-6481-7907
Yayımlanma Tarihi	20 Ekim 2023
Kabul Tarihi	8 Eylül 2023
Yayımlandığı Sayı	Yıl 2023 Cilt: 15 Sayı: 3

Kaynak Göster

APA	Yavaş, C., Doğan, M., Eröz, R., Canat, H. L. (2023). Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients. Konuralp Medical Journal, 15(3), 383-389. https://doi.org/10.18521/ktd.1299776
AMA	Yavaş C, Doğan M, Eröz R, Canat HL. Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients. Konuralp Medical Journal. Ekim 2023;15(3):383-389. doi:10.18521/ktd.1299776
Chicago	Yavaş, Cüneyd, Mustafa Doğan, Recep Eröz, ve Halil Lütfi Canat. “Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients”. Konuralp Medical Journal 15, sy. 3 (Ekim 2023): 383-89. https://doi.org/10.18521/ktd.1299776.
EndNote	Yavaş C, Doğan M, Eröz R, Canat HL (01 Ekim 2023) Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients. Konuralp Medical Journal 15 3 383–389.
IEEE	C. Yavaş, M. Doğan, R. Eröz, ve H. L. Canat, “Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients”, Konuralp Medical Journal, c. 15, sy. 3, ss. 383–389, 2023, doi: 10.18521/ktd.1299776.
ISNAD	Yavaş, Cüneyd vd. “Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients”. Konuralp Medical Journal 15/3 (Ekim 2023), 383-389. https://doi.org/10.18521/ktd.1299776.
JAMA	Yavaş C, Doğan M, Eröz R, Canat HL. Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients. Konuralp Medical Journal. 2023;15:383–389.
MLA	Yavaş, Cüneyd vd. “Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients”. Konuralp Medical Journal, c. 15, sy. 3, 2023, ss. 383-9, doi:10.18521/ktd.1299776.
Vancouver	Yavaş C, Doğan M, Eröz R, Canat HL. Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients. Konuralp Medical Journal. 2023;15(3):383-9.

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