Skip to main content
SpringerLink
Log in

A de novo marker chromosome 15 in a child with isolated developmental delay

  • Research Note
  • Published:
Journal of Genetics Aims and scope Submit manuscript

Abstract

We report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization on marker chromosome revealed its origin from chromosome 15.

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

Figure 1

References

  • Crolla J. A., Dennis N. R. and Jacobs P. A. 1992 A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J. Med. Genet. 29, 699–703.

    Article  CAS  Google Scholar 

  • Crolla J. A., Harvey J. E., Sitch F. L. and Dennis N. R. 1995 Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum. Genet. 95, 161–170.

    Article  CAS  Google Scholar 

  • Crolla J. A., Howard P., Mitchell C., Long F. L. and Dennis N. R. 1997 A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. Am. J. Med. Gene. 72, 440–447.

    Article  CAS  Google Scholar 

  • Dennis N. R., Veltman M. W., Thompson R., Craig E., Bolton P. F. and Thomas N. S. 2006 Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am. J. Med. Genet. Part A 140a, 434–441.

  • Eggermann K., Mau U. A., Bujdoso G., Koltai E., Engels H., Schubert R. et al. 2002 Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases. Clin. Genet. 62, 89–93.

    Article  Google Scholar 

  • Graf M. D., Christ L., Mascarello J. T., Mowrey P., Pettenati M. and Stetten G. 2006 Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J. Med. Genet. 43, 660–664.

    Article  CAS  Google Scholar 

  • ISCN 2013 In an international system for human cytogenetic nomenclature (ed. L. G. Shaffer, J. McGowan-Jordan and M. Schmid), pp. 73–74. Karger, Basel.

  • Jang W., Chae H., Kim J., Son J. O., Kim S. C., Koo B. K. et al. 2016 Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization. Mol. Cyt. 61, 1–10.

    Google Scholar 

  • Jane A. H. 2017 Supernumerary marker chromosomes (SMCs) – prenatal. In Oxford desk reference clinical genetics (ed. J. G. Hall), pp. 690. Oxford University Press, Oxford.

  • Kolialexi A., Kitsiou S., Fryssira H., Sofocleous C., Kouvidi E. and Tsangaris G. T. 2006 Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH). In Vivo 20, 473–478.

    CAS  Google Scholar 

  • Liehr T., Claussen U. and Starke H. 2004 Small supernumerary marker chromosomes (sSMC) in humans. Cyt. Gen. Res. 107, 55–67.

    Article  CAS  Google Scholar 

  • Melo B. C. S., Portocarrero A., Alves C., Sampaio A. and Vieira L. M. 2015 Paternal transmission of small supernumerary marker chromosome 15 identified in prenatal diagnosis due to advanced maternal age. Clin. Med. Insights Case Rep. 8, 93–96.

    Article  Google Scholar 

  • Stefanou E. G. and Crocker M. 2004 A chromosome 21-derived minute marker in a mosaic trisomy 21 background: implications for risk assessments in marker chromosome cases. Am. J. Med. Genet. 127A,191–193.

    Article  Google Scholar 

  • Xue H., Huang H., Wang Y., An G., Zhang M., Xu L. et al. 2019 Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis. Mol. Cyt. 12, 1–12.

    Google Scholar 

Download references

Acknowledgements

We are grateful to the patient and his parents for their participation in this study and to Dr S. Sridharan and Dr A. Andal at KKCTH, Chennai, Tamil Nadu, India for their support and help in the successful completion of the study. We also thank Dr Sitaram Harihar at SRMIST, Kattankulathur for his selfless help which enabled to present this paper more fluently and clearly.

Author information

Authors and Affiliations

  1. Department of Genetic Engineering, SRM Institute of Science and Technology, Kattankulathur, 603 203, India

    Madhavan Jeevan Kumar & Venkatasubramanian Hemagowri

  2. Department of Medical Genetics, CHILDS Trust Medical Research Foundation (CTMRF), Kanchi Kamakoti CHILDS Trust Hospital, Chennai, 600 034, India

    Madhavan Jeevan Kumar, Kalpana Gowrishankar & Venkatasubramanian Hemagowri

  3. Department of Molecular Cytogenetics, Centre for Human Genetics, Bengaluru, 560 100, India

    Jayarama Kadandale

Authors
  1. Madhavan Jeevan Kumar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kalpana Gowrishankar
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Venkatasubramanian Hemagowri
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jayarama Kadandale
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Madhavan Jeevan Kumar.

Additional information

Corresponding editor: H. A. Ranganath

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kumar, M.J., Gowrishankar, K., Hemagowri, V. et al. A de novo marker chromosome 15 in a child with isolated developmental delay. J Genet 99, 72 (2020). https://doi.org/10.1007/s12041-020-01231-9

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s12041-020-01231-9

Keywords

Search

Navigation