Skip to main content
Log in

A subtelomeric translocation apparently implied in multiple abortions

  • Case Report
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Purpose : Chromosomal alterations are a major cause of clinically recognized abortions. So cryptic chromosomal rearrangements could be responsible for recurrent miscarriages.

Methods : The study was performed on 18 clinically normal couples who had four or more spontaneous abortions and whose karyotypes were found to be normal. Fluorescence in situ hybridization with specific probes of subtelomeric regions was used after optimizing the amount of probe.

Results : Only one subtelomeric translocation was detected between 2p and 3p chromosomes, in a female with seven miscarriages.

Conclusion : Subtelomeric rearrangements are infrequently related to multiple miscarriages. This kind of studies can be considered specially worthy when a couple have had not only abortions but also offspring with mental and physical anomalies. Thus, possible initial studies should focus on affected children or fetus.

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

Access this article

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1.
Fig. 2.

REFERENCES

  1. Dhont M: Recurrent miscarriage. Curr Women Health Rep 2003;3(5):361–366. Review

    Google Scholar 

  2. Brackley KJ, Kilby MD, Morton J, Whittle MJ, Knight SJ, Flint J: A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation. Prenat Diagn 1999;19(6):570–574

    Article  PubMed  CAS  Google Scholar 

  3. Shaffer LG, Spikes AS, Macha M, Dunn R: Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report. J Reprod Med 1996;41(5):367–371

    PubMed  CAS  Google Scholar 

  4. Cockwell AE, Jacobs PA, Beal SJ, Crolla JA: A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities. Hum Genet 2003;112(3):298–302.

    PubMed  Google Scholar 

  5. Yakut S, Berker-Karauzum S, Simsek M, Zorlu G, Trak B, Luleci G: Telomere-specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages. Clin Genet 2002;61(1):26–31

    Article  PubMed  CAS  Google Scholar 

  6. Fan YS, Zhang Y: Subtelomeric translocations are not a frequent cause of recurrent miscarriages. Am J Med Genet 2002109(2):154

  7. Jalal SM, Harwood AR, Sekhon GS, Pham Lorentz C, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH, Jr, Michels VV: Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 2003;5(1):28–34

    PubMed  CAS  Google Scholar 

  8. Benzacken B, Carbillon L, Dupont C, Siffroi JP, Monier-Gavelle F, Bucourt M, Uzan M, Wolf JP: Lack of submicroscopic rearrangements involving telomeres in reproductive failures. Hum Reprod 2002;17(5):1154–1157

    Article  PubMed  CAS  Google Scholar 

  9. De Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM: Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 2001;38(3):145–150

    Article  PubMed  Google Scholar 

  10. De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C: Telomeres: A diagnosis at the end of the chromosomes. J Med Genet 2003;40(6):385–398

    Article  PubMed  Google Scholar 

  11. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;57(12):15, 30

    Google Scholar 

Download references

ACKNOWLEDGMENTS

This work was supported by Grant No. SAF2001-0404 from the Ministerio de Ciencia y Tecnología and FEDER (Fondos Europeo de Desarrollo Regional).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Carmen Orellana.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Monfort, S., Martínez, F., Roselló, M. et al. A subtelomeric translocation apparently implied in multiple abortions. J Assist Reprod Genet 23, 97–101 (2006). https://doi.org/10.1007/s10815-006-9033-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-006-9033-5

KEY WORDS

Navigation