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

• Published in: Molecular cytogenetics Vol. 17; no. 1; p. 8
• Main Authors: Vitetta, Giulia, Desiderio, Laura, Baccolini, Ilaria, Uliana, Vera, Lanzoni, Giulia, Ghi, Tullio, Pilu, Gianluigi, Ambrosini, Enrico, Caggiati, Patrizia, Barili, Valeria, Trotta, Anna Carmela, Liuti, Maria Rosaria, Malpezzi, Elisabetta, Pittalis, Maria Carla, Percesepe, Antonio
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 08.04.2024; BioMed Central; BMC
• Subjects: Case Report; Cell division; Chorionic villi; Chromatin remodeling; Chromosomes; Congenital diseases; Cryptic rearrangement; Embryogenesis; Embryonic development; Fetuses; Genomes; Genomic instability; Genomics; Heart; Intellectual disabilities; Morphology; Placenta; Pregnancy; Ultrasonic imaging; Cryptic rearrangement; Chorionic villi; Genomic instability
• ISSN: 1755-8166; 1755-8166
• DOI: 10.1186/s13039-024-00675-3

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.