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Hum. Reprod. Advance Access published online on December 16, 2005
Human Reproduction, doi:10.1093/humrep/dei406
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received August 30, 2005
Revised October 20, 2005
Accepted November 1, 2005

Article

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

Dan Diego-Alvarez 1 *, Carmen Ramos-Corrales 1, Maria Garcia-Hoyos 1, Ana Bustamante-Aragones 1, Diego Cantalapiedra 1, Joaquin Diaz-Recasens 2, Elena Vallespin-Garcia 1, Carmen Ayuso 1, and Isabel Lorda-Sanchez 1

1 Human Genetics, Fundacion Jimenez Diaz, Avda Reyes Católicos 2, 28040, Madrid, Spain
2 Obstetrics and Gynecology, Fundacion Jimenez Diaz, Avda Reyes Católicos 2, 28040, Madrid, Spain

* To whom correspondence should be addressed.
Dan Diego-Alvarez, E-mail: ddiego{at}fjd.es


  Abstract

BACKGROUND: Although single trisomy is the most common chromosomal abnormality observed within first trimester spontaneous abortions (SA) (>50%), double trisomy (DT) ranges from 0.21 to 2.8% in the literature. Since little is known about mechanisms underlying DT, we report the results of our experience with 517 SA, establishing parental origin and cell stage of non-disjunction when possible in DT cases, and making a revision of those previously reported. METHODS: Cytogenetic analysis was performed in all aborted specimens. Quantitative fluorescent PCR (QF-PCR) and multiplex ligation-dependent probe amplification (MLPA) were performed in DT cases in order to assess parental origin and stage of error of aneuploidy in addition to its reliability in detecting aneuploidies. RESULTS: Karyotyping was successful in 321 miscarriages; the rate of DT was 2.18%. Among the seven DT cases reported, three new combinations were found. Maternal origin was established for all DT SA analysed. Meiotic stage of error was presumed meiosis I (MI) for 48,XX+15+22 and 48,XX+8+21, meiosis II (MII) for 48,XXX+18, and MII and MI respectively for 48,XY+18+22. Molecular results agreed with cytogenetic results. CONCLUSIONS: Similar maternal age-related mechanisms could be implicated in both single and double trisomy. Molecular techniques could be useful in diagnosing not only single but multiple aneuploidy and determining its origin. This will improve our knowledge about mechanisms underlying human aneuploidy, and enable appropiate genetic counselling.

Keywords: aneuploidy/double trisomy/MLPA/QF-PCR/spontaneous miscarriage.
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