Skip to main content
Log in

Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

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

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.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

References

  1. Nikcevic AV, Tunkel SA, Kuczmierczyk AR, Nicolaides KH. Investigation of the cause of miscarriage and its influence on women’s psychological distress. Br J Obstet Gynaecol. 1999;106(8):808–13.

    Article  PubMed  CAS  Google Scholar 

  2. Griebel CP, Halvorsen J, Golemon T, Day AA. Management of spontaneous abortion. Am Fam Physician. 2005;72(7):1243–9.

    PubMed  Google Scholar 

  3. Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet. 1980;44:151–78.

    Article  PubMed  CAS  Google Scholar 

  4. Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod. 2006;21(4):958–66.

    Article  PubMed  CAS  Google Scholar 

  5. Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, et al. A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet A. 2004;15:69–73.

    Article  Google Scholar 

  6. Patton S, Stenhouse S. Draft best practice guidelines for laboratory internal quality control. 2001. Available on European Molecular Quality Network website (www.emqn.org).

  7. Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn. 1997;17(13):1299–311.

    Article  PubMed  CAS  Google Scholar 

  8. 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;30:e57.

    Article  PubMed  Google Scholar 

  9. Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Gene Chromosome Canc. 1997;20(4):399–407.

    Article  CAS  Google Scholar 

  10. Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, et al. Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res. 2010;36(2):435–40.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We would like to thank Dan Diego Alvarez and Belen Gomez for their contributions to this work and Oliver Shaw for his revision of the English version of this article. Mónica Martínez-García is sponsored by the Fundación Conchita Rábago at the Fundación Jiménez Díaz. This work has been sponsored by the Fundación Ramón Areces (4715/001) and the CIBER-ER at the Instituto de Salud Carlos III (06/07/0036).

“The corresponding Author has the right to grant on behalf of all authors, an exclusive (or non-exclusive for government employees) on a worldwide license to a Human Reproduction Journal and its licences, to permit this article (if accepted) to be published in Human Reproduction Journal and other Human Reproduction Journal Group products and to exploit all subsidiary rights, as set out in our licence.

Conflict of interest

None to report

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Monica Martinez-Garcia.

Additional information

Capsule A full monosomy 21 was detected by MLPA in a chorionic villi sample taken during the 7th week of pregnancy and confirmed by array CGH.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Martinez-Garcia, M., Ainse, E., García-Hoyos, M. et al. Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. J Assist Reprod Genet 28, 621–626 (2011). https://doi.org/10.1007/s10815-011-9569-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-011-9569-x

Keywords

Navigation