Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.

ABSTRACT: Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called "dynamic mosaicism", phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Here, we observed similar mosaicism rates and

SUBMITTER: Petter C 

PROVIDER: S-EPMC6949681 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature