Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.
Journal
Case reports in genetics
ISSN: 2090-6544
Titre abrégé: Case Rep Genet
Pays: United States
ID NLM: 101583302
Informations de publication
Date de publication:
2019
2019
Historique:
received:
15
10
2019
accepted:
19
11
2019
entrez:
25
1
2020
pubmed:
25
1
2020
medline:
25
1
2020
Statut:
epublish
Résumé
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 specific gene loss profile among three individuals with ring chromosome 13 using GTW-banding karyotype analyses along with FISH and CGH-array approaches. Karyotypes results were: patient 1-r(13)(p13q32.3), patient 2-r(13)(p11q33.3), and patient 3-r(13)(p12q31.1). Array-CGH has revealed qualitative genetic differences among patients in this study and it was elusive in precise chromosomal loss statement, ranging from 13 Mb, 6.8 Mb, and 30 Mb in size. MIR17HG and ZIC2 loss was observed in a patient with digital anomalies, severe growth failure, microcephaly and corpus callosum agenesis while hemizygotic EFNB2 gene loss was identified in two patients, one of them with microphtalmia. According to these findings, it can be concluded that specific hemizygotic loss of genes related to development, more than dynamic mosaicism, may be causative of congenital anomalies shown in patients with ring 13 chromosome.
Identifiants
pubmed: 31976095
doi: 10.1155/2019/7250838
pmc: PMC6949681
doi:
Types de publication
Case Reports
Langues
eng
Pagination
7250838Informations de copyright
Copyright © 2019 Cristian Petter et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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