[HTML][HTML] The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
O Zuffardi, M Fichera, MC Bonaglia - European Journal of Medical Genetics, 2022 - Elsevier
De novo distal deletions are structural variants considered to be already present in the
zygote. However, investigations especially in the prenatal setting have documented that they
are often in mosaic with cell lines in which the same deleted chromosome shows different
types of aberrations such as: 1) neutral copy variants with loss of heterozygosity that replace
the deleted region with equivalent portions of the homologous chromosome and create
distal uniparental disomy (UPD); 2) derivative chromosomes where the deleted one ends …
zygote. However, investigations especially in the prenatal setting have documented that they
are often in mosaic with cell lines in which the same deleted chromosome shows different
types of aberrations such as: 1) neutral copy variants with loss of heterozygosity that replace
the deleted region with equivalent portions of the homologous chromosome and create
distal uniparental disomy (UPD); 2) derivative chromosomes where the deleted one ends …