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Model for the Origin of Human Embryonic Aneuploidy Based on Fragmentation Timing

Proposed model for the origin of human embryonic aneuploidy based on fragmentation timing, fragment resorption and underlying chromosomal abnormalities. Human embryos with meiotic errors (monosomies and trisomies) and those that appear to be triploid typically exhibit fragmentation at the one-cell stage (Supplementary Movie 5), whereas fragmentation is most often detected at the two-cell stage in embryos with mitotic errors (Supplementary Movie 6). We also demonstrate that missing chromosome(s) are contained within fragments (Supplementary Fig. S9a) termed embryonic micronuclei and for those embryos with mitotic errors, propose that the embryo likely divided before these chromosomes properly aligned on the mitotic spindle. The correlation between the timing of fragmentation and the type of embryonic aneuploidy suggests that the embryo may respond to chromosomal abnormalities and undergoes fragmentation as a survival mechanism. As development proceeds, these fragments either remain or are reabsorbed by the blastomere from which they originated or a neighbouring blastomere to generate the complex human aneuploidies observed (Supplementary Movie 4).

Above text from figure legend and Supplementary Movies refers to the original article supplementary information.

Links: Abnormal Development - Genetic | Trisomy 21 | Morula

Reference

<pubmed>23212380</pubmed>| Nat Commun.

Copyright

http://creativecommons.org/licenses/by-nc-sa/3.0/

Figure 5. Ncomms2249-f5.jpg Original figure cropped panel C and altered in size and labelling.

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