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  Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

Fritz, B., Aslan, M., Kalscheuer, V., Ramsing, M., Saar, K., Fuchs, B., et al. (2001). Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet, 9(12), 910-6. doi:10.1038/sj.ejhg.5200741.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E02F-D Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E030-A
Genre: Journal Article

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Fritz, B.1, Author
Aslan, M.1, Author
Kalscheuer, V.1, Author
Ramsing, M.1, Author
Saar, K.1, Author
Fuchs, B.1, Author
Rehder, H.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Abortion, Spontaneous/*genetics Adult Female Humans Incidence Pregnancy *Uniparental Disomy
 Abstract: Approximately 15-20% of all clinically recognised pregnancies abort, most commonly between 8-12 gestational weeks. While the majority of early pregnancy losses is attributed to cytogenetic abnormalities, the aetiology of approximately 40% of early abortions remains unclear. To determine additional factors causing spontaneous abortions we retrospectively searched for uniparental disomies (UPD) in 77 cytogenetically normal diploid spontaneous abortions. In all cases an unbalanced chromosome anomaly was ruled out by cytogenetic investigation of chorionic/amniotic membranes and/or chorionic villi. For UPD screening microsatellite analyses were performed on DNA of abortion specimens and parental blood using highly polymorphic markers showing UPD in two cases. The distribution of markers analysed indicated maternal heterodisomy for chromosome 9 (UPhD(9)mat) in case 1 and paternal isodisomy for chromosome 21 (UPiD(21)pat) in case 2. The originating mechanism suggested was monosomy complementation in UPiD(21)pat and trisomy rescue in UPhD(9)mat. In the case of UPhD(9)mat purulent chorioamnionitis was noted and a distinctly growth retarded embryo of 3 cm crown-rump length showing no gross external malformations. Histological analysis in the case of UPiD(21)pat suggested a primary anlage defect. Our results indicate that less than 3% of genetically unexplained pregnancy wastage is associated with total chromosome UPD. UPD may contribute to anlage defects of human conception. Chromosome aneuploidy correction can occur in very early cleavage stages. More research, however, ought to be performed into placental mosaicism to further clarify timing and mechanisms involved in foetal UPD.

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 Dates: 2001
 Publication Status: Published in print
 Pages: -
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 Rev. Type: -
 Identifiers: Other: 11840192
DOI: 10.1038/sj.ejhg.5200741
ISSN: 1018-4813 (Print) 1018-4813 (Linking)
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Title: Eur J Hum Genet
  Alternative Title : European journal of human genetics : EJHG
Source Genre: Journal
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Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 9 (12) Sequence Number: - Start / End Page: 910 - 6 Identifier: -