References
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.
Griebel CP, Halvorsen J, Golemon T, Day AA. Management of spontaneous abortion. Am Fam Physician. 2005;72(7):1243–9.
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.
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.
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.
Patton S, Stenhouse S. Draft best practice guidelines for laboratory internal quality control. 2001. Available on European Molecular Quality Network website (www.emqn.org).
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.
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.
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.
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.
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).
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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.
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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
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DOI: https://doi.org/10.1007/s10815-011-9569-x