Evidence map›Paper›PMID 7989035›Full record

ArticleHuman genetics1994

Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescence in situ hybridisation.

E Coonen, J C Harper, F C Ramaekers, J D Delhanty, A H Hopman, J P Geraedts, A H Handyside

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Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed.

  1. Review
  2. Review
  3. Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
  4. Article
  5. Mosaic variegated aneuploidy in mouse BubR1 deficient embryos and pregnancy loss in human.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2014
    Article
  6. Article
  7. Article
  8. Article
  9. Detection of embryo sex chromosome by dual color fluorescent in-situ hybridization.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2003
    Article
  10. Article
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  12. Article
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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

E CoonenDepartment of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
J C Harper
F C Ramaekers
J D Delhanty
A H Hopman
J P Geraedts
A H Handyside

Funding

Wellcome Trust
6 · The paper itself

Abstract

The extent of chromosomal mosaicism in human preimplantation embryos was examined using an improved procedure for the preparation and spreading of interphase nuclei for use in fluorescence in situ hybridisation, allowing the analysis of every nucleus within an embryo. One cell showed no hybridisation signals in only three of the 38 embryos that were included in this study, i.e. the hybridisation efficiency per successfully spread nucleus was 99% (197/200). Double-target in situ hybridisation analyses with X- and Y-chromosome-specific probes was performed to analyse nine embryos resulting from normal fertilisation, 22 polypronucleate embryos and seven cleavage-stage embryos where no (apronucleate) or only one pronucleus (monopronucleate) was observed. We also analysed autosomes 1 and 7 by double-target in situ hybridisation in the nuclei of two apronucleate, one monopronucleate and four polypronucleate embryos. All nine embryos that resulted from normal fertilisation were uniformly XY or XX. None of the apronucleate or monopronucleate embryos was haploid: three were diploid, one was triploid and three were mosaic. Fertilisation was detected by the presence of a Y-specific signal in four of these embryos. Of the polypronucleate embryos, two were diploid, two were triploid and 18 were mosaic for the sex chromosomes and/or autosomes 1 and 7. These results demonstrate that fertilisation sometimes occurs in monopronucleate embryos and that chromosomal mosaicism can be detected with high efficiency in apronucleate, monopronucleate and polypronucleate human embryos using fluorescence in situ hybridisation.

Indexed as

BlastocystChromosomes, Human, Pair 1Chromosomes, Human, Pair 7DNA ProbesHumansIn Situ Hybridization, FluorescenceMosaicismX ChromosomeY ChromosomeDNA Probes

Identifiers

PMID7989035

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.