Skip to main content

Advertisement

SpringerLink
Log in

A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin

  • CASE REPORT
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Aim

To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes.

Methods

G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs.

Results

The karyotype of this patient was established as 47, XY, +mar/46, XY. C-banding showed that the marker chromosome was composed of heterochromatin without visible euchromatic material. No positive result was obtained in STRP, M-FISH and the microdeletion analysis of Y- chromosome.

Conclusions

The small supernumerary marker chromosome could play a causative role in male infertility although the mechanism remains to be elucidated.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004;107:55–67. doi:10.1159/000079572.

    Article  PubMed  CAS  Google Scholar 

  2. Kirsch IR, Morton CC, Nakahara K, Leder P. Human immunoglobulin heavy chain genes map to a region of translocations in malignant B lymphocytes. Science. 1982;216:301–3. doi:10.1126/science.6801764.

    Article  PubMed  CAS  Google Scholar 

  3. Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques. 1991;10:506–13.

    PubMed  CAS  Google Scholar 

  4. Yan J, Wu J, Li Y, Wang H, Huang Z, Zhou X, et al. A novel diagnostic strategy for trisomy 21 using short tandem repeats. Electrophoresis. 2006;27:416–22. doi:10.1002/elps.200500349.

    Article  PubMed  CAS  Google Scholar 

  5. Dada R, Gupta NP, Kucheria K. Yq microdeletions–azoospermia factor candidate genes and spermatogenic arrest. J Biomol Tech. 2004;15:176–83.

    PubMed  Google Scholar 

  6. Mackie Ogilvie C, Harrison RH, Horsley SW, Hodgson SV, Kearney L. A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes and chromosome specific telomere regions: a novel class of supernumerary marker chromosome? Cytogenet Cell Genet. 2001;92:69–73. doi:10.1159/000056871.

    Article  PubMed  CAS  Google Scholar 

  7. Forus A, Weghuis DO, Smeets D, Fodstad O, Myklebost O, van Kessel AG. Comparative genomic hybridization analysis of human sarcomas: I. Occurrence of genomic imbalances and identification of a novel major amplicon at 1q21–q22 in soft tissue sarcomas. Genes Chromosomes Cancer. 1995;14:8–14. doi:10.1002/gcc.2870140103.

    Article  PubMed  CAS  Google Scholar 

  8. Forus A, Weghuis DO, Smeets D, Fodstad O, Myklebost O, van Kessel AG. Comparative genomic hybridization analysis of human sarcomas: II Identification of novel amplicons at 6p and 17p in osteosarcomas. Genes Chromosomes Cancer. 1995;14:15–21. doi:10.1002/gcc.2870140104.

    Article  PubMed  CAS  Google Scholar 

  9. Muleris M, Almeida A, Gerbault-Seureau M, Malfoy B, Dutrillaux B. Identification of amplified DNA sequences in breast cancer and their organization within homogeneously staining regions. Genes Chromosomes Cancer. 1995;14:155–63. doi:10.1002/gcc.2870140302.

    Article  PubMed  CAS  Google Scholar 

  10. Pandita A, Godbout R, Zielenska M, Thorner P, Bayani J, Squire JA. Relational mapping of MYCN and DDXI in band 2p24 and analysis of amplicon arrays in double minute chromosomes and homogeneously staining regions by use of free chromatin FISH. Genes Chromosomes Cancer. 1997;20:243–52. doi:10.1002/(SICI)1098-2264(199711)20:3<243::AID-GCC4>3.0.CO;2-2.

    Article  PubMed  CAS  Google Scholar 

  11. Liehr T, Mrasek K, Kosyakova N, Ogilvie CM, Vermeesch J, Trifonov V, et al. Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them. Mol Cytogenet. 2008;1:1. doi:10.1186/1755-8166-1-12.

    Article  PubMed  Google Scholar 

  12. Eggermann K, Mau UA, Bujdosó G, Koltai E, Engels H, Schubert R, et al. Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases. Clin Genet. 2002;62:89–93. doi:10.1034/j.1399-0004.2002.620113.x.

    Article  PubMed  Google Scholar 

  13. McNerlan SE, Morrison PJ, McClure N, Nevin NC. A supernumerary chromosome 20, identified by FISH, in a male with azoospermia-cause or coincidence? Am J Med Genet A. 2003;117:188–90. doi:10.1002/ajmg.a.10899.

    Article  Google Scholar 

  14. Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med. 2007;19:719–31.

    PubMed  Google Scholar 

  15. Buckton KE, Spowart G, Newton MS, Evans HJ. Forty four probands with an additional “marker” chromosome. Hum Genet. 1985;69:353–70. doi:10.1007/BF00291656.

    Article  PubMed  CAS  Google Scholar 

  16. Martin RH, Hildebrand KA, Yamamoto J, Peterson D, Rademaker AW, Taylor P, et al. The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes. Am J Med Genet. 1986;25:381–8. doi:10.1002/ajmg.1320250225.

    Article  PubMed  CAS  Google Scholar 

  17. Miklos GL. Sex-chromosome pairing and male fertility. Cytogenet Cell Genet. 1974;13:558–77. doi:10.1159/000130307.

    Article  PubMed  CAS  Google Scholar 

  18. Zuffardi O, Tiepolo L. Frequencies and types of chromosomeabnormalities associated with human male infertility. In: Crosignani PG, Rubin BL, editors. Genetic Control of Gamete Production and Function. New York: Academic; 1982. p. 261–73.

    Google Scholar 

  19. Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod. 2002;17:13–6. doi:10.1093/humrep/17.1.13.

    Article  PubMed  CAS  Google Scholar 

  20. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod. 1991;6:245–50.

    PubMed  Google Scholar 

  21. Sheridan R, Llerena J Jr, Matkins S, Debenham P, Cawood A, Bobrow M. Fertility in a male with trisomy 21. J Med Genet. 1989;26:294–8. doi:10.1136/jmg.26.5.294.

    Article  PubMed  CAS  Google Scholar 

  22. Steinbach P, Djalali M. Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction. Hum Genet. 1983;64:402–3. doi:10.1007/BF00292376.

    Article  PubMed  CAS  Google Scholar 

  23. Liehr T, Mrasek K, Weise A, Dufke A, Rodríguez L, Martínez Guardia N, et al. Small supernumerary marker chromosomes—progress towards a genotype-phenotype correlation. Cytogenet Genome Res. 2006;112:23–34. doi:10.1159/000087510.

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We are grateful to Dr. Yimei Fan and Dr. Huimei Chen for their valuable advice on preparing the manuscript. This work is supported by grants from Jiangsu Health Department (Grant number: H2006), China.

Author information

Authors and Affiliations

  1. Department of Medical Genetics, School of Medicine, Nanjing University, 22 Hankou Road, Nanjing, 210093, China

    Wei Wang & Ya-ping Wang

  2. Affiliated Drum Tower Hospital, School of Medicine, Nanjing University, Nanjing, 210008, China

    Yali Hu, Haiyan Zhu, Jie Li & Ruifang Zhu

  3. Jiangsu Key Laboratory of Molecular Medicine, Nanjing University, Nanjing, 210093, China

    Wei Wang, Yali Hu, Haiyan Zhu, Jie Li, Ruifang Zhu & Ya-ping Wang

Authors
  1. Wei Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yali Hu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Haiyan Zhu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jie Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Ruifang Zhu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Ya-ping Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ya-ping Wang.

Additional information

Capsule

We report a case of an infertile male with heterochromatic sSMCs, and analyze the relationship between infertility and heterochromatic sSMCs.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wang, W., Hu, Y., Zhu, H. et al. A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin. J Assist Reprod Genet 26, 291–295 (2009). https://doi.org/10.1007/s10815-009-9310-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-009-9310-1

Keywords

Search

Navigation