Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
Chorionic villi
Cryptic rearrangement
Genomic instability
Journal
Molecular cytogenetics
ISSN: 1755-8166
Titre abrégé: Mol Cytogenet
Pays: England
ID NLM: 101317942
Informations de publication
Date de publication:
08 Apr 2024
08 Apr 2024
Historique:
received:
11
12
2023
accepted:
12
03
2024
medline:
9
4
2024
pubmed:
9
4
2024
entrez:
8
4
2024
Statut:
epublish
Résumé
Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection of the most viable cell line/s in the embryo and the unfavourable imbalances in placental tissues was documented in our previous paper and in the literature. We report four additional cases with mosaic derivative chromosomes in different feto-placental tissues, further showing the instability of an intermediate gross imbalance as a frequent mechanism of de novo cryptic deletions and duplications. In conclusion we underline how the extensive remodeling of unbalanced chromosomes in placental tissues represents the 'backstage' of de novo structural rearrangements, as the early phases of a long selection process that the genome undergo during embryogenesis.
Identifiants
pubmed: 38589928
doi: 10.1186/s13039-024-00675-3
pii: 10.1186/s13039-024-00675-3
doi:
Types de publication
Journal Article
Langues
eng
Pagination
8Informations de copyright
© 2024. The Author(s).
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