Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
April-2020 Volume 19 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
April-2020 Volume 19 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Case Report Open Access

Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report

  • Authors:
    • Meiling Sun
    • Ruixue Wang
    • Hongguo Zhang
    • Yuting Jiang
    • Jing He
    • Shibo Li
    • Ruizhi Liu
  • View Affiliations / Copyright

    Affiliations: Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma, OK 73104, USA
    Copyright: © Sun et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2927-2932
    |
    Published online on: February 21, 2020
       https://doi.org/10.3892/etm.2020.8542
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that may be detected pre‑ or postnataly in patients with developmental and/or mental retardation or infertility. sSMC on chromosome 15 accounts for the highest proportion of all sSMCs and may be detected in subfertile individuals. The present study reports the case of a male patient with oligoasthenoteratozoospermia and an sSMC. The sSMC was identified and characterized according to G‑banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis. Chromosomal karyotype analysis suggested that the patient presented with 47,XY,+mar. CMA was used to characterize the sSMC, which revealed a 0.44‑Mb microduplication in 6q25.3q26. Subsequently, FISH using centromere‑specific probes for chromosomes 13/21, 14/22 and 15 was applied to identify the origin of the sSMC, which was finally determined to be inverted duplicated(15)(q11.2). It was hypothesized that heterochromatin in the sSMC is responsible for the patient's fertility problem. The presence of heterochromatin may disrupt regular meiosis, thereby affecting normal spermatogenesis. Impaired spermatogenesis in infertile males with an sSMC derived from chromosome 15 was also reviewed by searching published literature and the sSMC database (http://ssmc‑tl.com/sSMC.html). For patients with low sperm parameters and complete absence of spermatozoa in the ejaculate, including infertile males with an sSMC with spermatozoa, intracytoplasmic sperm injection is considered as an effective assisted reproductive technique. It may be concluded that molecular cytogenetic techniques are critical tools for delineating sSMCs in infertile males and may be beneficial in identifying sSMC carriers to ensure they receive clinical genetic counseling.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Armanet N, Tosca L, Brisset S, Liehr T and Tachdjian G: Small supernumerary marker chromosomes in human infertility. Cytogenet Genome Res. 146:100–108. 2015.PubMed/NCBI View Article : Google Scholar

2 

Neto FT, Bach PV, Najari BB, Li PS and Goldstein M: Genetics of Male Infertility. Curr Urol Rep. 17(70)2016.PubMed/NCBI View Article : Google Scholar

3 

Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, et al: Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med. 21:705–714. 2008.PubMed/NCBI

4 

Liehr T and Hamid Al-Rikabi AB: Impaired spermatogenesis due to small supernumerary marker chromosomes: The reason for infertility is only reliably ascertainable by cytogenetics. Sex Dev. 2018.PubMed/NCBI View Article : Google Scholar : (Epub ahead of print).

5 

Wang H, Wang T, Yang N, He Y, Chen L, Hong L, Shao X and Li H, Zhu H and Li H: The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype. Oncol Lett. 13:4385–4389. 2017.PubMed/NCBI View Article : Google Scholar

6 

Plaja A, Lloveras E, Martinez-Bouzas C, Barreña B, Del Campo M, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, et al: Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration. Am J Med Genet A. 161A:2363–2368. 2013.PubMed/NCBI View Article : Google Scholar

7 

Guediche N, Tosca L and Kara Terki A: Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility. Reprod Biomed Online. 24:72–82. 2012.PubMed/NCBI View Article : Google Scholar

8 

Quinonez SC, Gelehrter TD and Uhlmann WR: A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15. Am J Med Genet A. 173:268–273. 2017.PubMed/NCBI View Article : Google Scholar

9 

Crolla JA, Youings SA, Ennis S and Jacobs PA: Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited. Eur J Hum Genet. 13:154–160. 2005.PubMed/NCBI View Article : Google Scholar

10 

WHO Laboratory Manual for the Examination and Processing of Human Semen. 5th edition. World Health Organization, Geneva, 2010.

11 

Zhang H, Wang R, Li L, Jiang Y, Zhang H and Liu R: Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature. Medicine (Baltimore). 97(e0452)2018.PubMed/NCBI View Article : Google Scholar

12 

McGowan-Jordan J, Simons A and Schmid M: ISCN (2016): An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: Karger. 2016.

13 

Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kaźmierczak A, Obersztyn E, Ziemkiewicz K, Gerloff C, Schanze D, Zenker M, et al: Multiple small supernumerary marker chromosomes resulting from maternal meiosis i or ii errors. Mol Syndromol. 6:210–221. 2016.PubMed/NCBI View Article : Google Scholar

14 

Sun M, Zhang H, Li G, Guy CJ, Wang X, Lu X, Gong F, Lee J, Hassed S and Li S: Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization. Sci Rep. 7(10395)2017.PubMed/NCBI View Article : Google Scholar

15 

Peschka B, Leygraaf J, Van der Ven K, Montag M, Schartmann B, Schubert R, van der Ven H and Schwanitz G: Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod. 14:2257–2263. 1999.PubMed/NCBI View Article : Google Scholar

16 

Cetin Z, Berker Karaüzüm S, Yakut S, Mihçi E, Baumer A, Wey E, Taçoy S, Bağci G and Lüleci G: M-FISH applications in clinical genetics. Genet Couns. 16:257–268. 2005.PubMed/NCBI

17 

Liehr T: Small supernumerary marker chromosomes detected in connection with infertility. Zhonghua Nan Ke Xue. 20:771–780. 2014.PubMed/NCBI

18 

Paetzold U, Schwanitz G, Schubert R, van der Ven K and Montag M: Sperm analyses, genetic counseling and therapy in an infertile carrier of a supernumerary marker chromosome 15. Adv Med Sci. 51:31–35. 2006.PubMed/NCBI

19 

Vulcani-Freitas TM, Gil-da-Silva-Lopes VL, Varella-Garcia M and Maciel-Guerra AT: Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dup(15). J Appl Genet. 47:89–91. 2006.PubMed/NCBI View Article : Google Scholar

20 

Magdi Y, Darwish E, Elbashir S, Majzoub A and Agarwal A: Effect of modifiable lifestyle factors and antioxidant treatment on semen parameters of men with severe oligoasthenoteratozoospermia. Andrologia: Nov 10, 2017 (Epub ahead of print). doi: 10.1111/and.12694.

21 

Liehr T and Weise A: Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med. 19:719–731. 2007.PubMed/NCBI

22 

Liehr T and Kosyakova N: Small supernumerary marker chromosomes (sSMC)-what about the genotype-phenotype correlation? Tsitologiia. 55:165–166. 2013.PubMed/NCBI

23 

Battaglia A: The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis. 3(30)2008.PubMed/NCBI View Article : Google Scholar

24 

Cotter PD, Ko E, Larabell SK, Rademaker AW and Martin RH: Segregation of a supernumerary del(15) marker chromosome in sperm. Clin Genet. 58:488–492. 2000.PubMed/NCBI View Article : Google Scholar

25 

Koç A, Onur SO, Ergün MA and Perçin EF: Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity. Asian J Androl. 11:617–622. 2009.PubMed/NCBI View Article : Google Scholar

26 

Liehr T: Small supernumerary marker chromosomes-an update. Mol Cytogenet: Jan 21, 2014 (Epub ahead of print). doi: 10.1186/1755-8166-7-S1-I11.

27 

Clarke R, Peden JF, Hopewell JC, Kyriakou T, Goel A, Heath SC, Parish S, Barlera S, Franzosi MG, Rust S, et al: Genetic variants associated with Lp(a) lipoprotein level and coronary disease. New Eng J Med. 361:2518–2528. 2009.PubMed/NCBI View Article : Google Scholar

28 

Gründemann D, Gorboulev V, Gambaryan S, Veyhl M and Koepsell H: Drug excretion mediated by a new prototype of polyspecific transporter. Nature. 372:549–552. 1994.PubMed/NCBI View Article : Google Scholar

29 

Hoermann S, Gai Z, Kullak-Ublick GA and Visentin M: Plasma membrane cholesterol regulates the allosteric binding of 1-methyl-4-phenylpyridinium to organic cation transporter 2 (SLC22A2). J Pharmacol Exp Ther. 372:46–53. 2020.PubMed/NCBI View Article : Google Scholar

30 

Gründemann D, Schechinger B, Rappold GA and Schömig E: Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter. Nat Neurosci. 1:349–351. 1998.PubMed/NCBI View Article : Google Scholar

31 

Wu X, Huang W, Ganapathy ME, Wang H, Kekuda R, Conway SJ, Leibach FH and Ganapathy V: Structure, function, and regional distribution of the organic cation transporter OCT3 in the kidney. Am J Physiol Renal Physiol. 279:F449–F458. 2000.PubMed/NCBI View Article : Google Scholar

32 

Mangan H, Gailín MÓ and McStay B: Integrating the genomic architecture of human nucleolar organizer regions with the biophysical properties of nucleoli. FEBS J. 284:3977–3985. 2017.PubMed/NCBI View Article : Google Scholar

33 

Martín-Lucas MA, Pérez-Castillo A and Abrisqueta JA: Infertility associated with two accessory bisatellited chromosomes. Hum Genet. 73:133–136. 1986.PubMed/NCBI View Article : Google Scholar

34 

Gentile M, Susca F, Resta N, Stella A, Cascone A and Guanti G: Infertility in carriers of two bisatellited marker chromosomes. Clin Genet. 44:71–75. 1993.PubMed/NCBI View Article : Google Scholar

35 

Kirkpatrick G, Ren H, Liehr T, Chow V and Ma S: Meiotic and sperm aneuploidy studies in three carriers of Robertsonian translocations and small supernumerary marker chromosomes. Fertil Steril. 103:1162–1169e7. 2015.PubMed/NCBI View Article : Google Scholar

36 

Perrin A, Nguyen MH, Delobel B, Guéganic N, Basinko A, Le Bris MJ, Douet-Guilbert N, De Braekeleer M and Morel F: Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: Case report and literature review. Eur J Med Genet. 55:743–746. 2012.PubMed/NCBI View Article : Google Scholar

37 

Oracova E, Musilova P, Kopecna O, Rybar R, Vozdova M, Vesela K and Rubes J: Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome. J Androl. 30:233–239. 2009.PubMed/NCBI View Article : Google Scholar

38 

Ranisch R: Germline genome editing versus preimplantation genetic diagnosis: Is there a case in favour of germline interventions? Bioethics. 34:60–69. 2020.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Sun M, Wang R, Zhang H, Jiang Y, He J, Li S and Liu R: Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. Exp Ther Med 19: 2927-2932, 2020.
APA
Sun, M., Wang, R., Zhang, H., Jiang, Y., He, J., Li, S., & Liu, R. (2020). Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. Experimental and Therapeutic Medicine, 19, 2927-2932. https://doi.org/10.3892/etm.2020.8542
MLA
Sun, M., Wang, R., Zhang, H., Jiang, Y., He, J., Li, S., Liu, R."Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report". Experimental and Therapeutic Medicine 19.4 (2020): 2927-2932.
Chicago
Sun, M., Wang, R., Zhang, H., Jiang, Y., He, J., Li, S., Liu, R."Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report". Experimental and Therapeutic Medicine 19, no. 4 (2020): 2927-2932. https://doi.org/10.3892/etm.2020.8542
Copy and paste a formatted citation
x
Spandidos Publications style
Sun M, Wang R, Zhang H, Jiang Y, He J, Li S and Liu R: Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. Exp Ther Med 19: 2927-2932, 2020.
APA
Sun, M., Wang, R., Zhang, H., Jiang, Y., He, J., Li, S., & Liu, R. (2020). Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. Experimental and Therapeutic Medicine, 19, 2927-2932. https://doi.org/10.3892/etm.2020.8542
MLA
Sun, M., Wang, R., Zhang, H., Jiang, Y., He, J., Li, S., Liu, R."Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report". Experimental and Therapeutic Medicine 19.4 (2020): 2927-2932.
Chicago
Sun, M., Wang, R., Zhang, H., Jiang, Y., He, J., Li, S., Liu, R."Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report". Experimental and Therapeutic Medicine 19, no. 4 (2020): 2927-2932. https://doi.org/10.3892/etm.2020.8542
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team