CLINICAL CHARACTERIZATION AND CYTOGENETIC-MOLECULAR STUDY OF A PATIENT WITH A RING CHROMOSOME 12
This study provided a detailed characterization of the ring rearrangement of chromosome 12, the first with SNP array, enhancing the understanding of its genetic and phenotypic implications and contributing to expanding knowledge about this condition. Additionally, the findings can aid in better understanding the patient's prognosis, clinical follow-up, and genetic counseling.
Authors
- Maria Isabel Melaragno (ORCID: https://orcid.org/0000-0002-4344-9698)
- Rayana Elias Maia (ORCID: https://orcid.org/0000-0002-8574-0168)
- Gil Rodrigues dos Santos (ORCID: https://orcid.org/0000-0002-3830-9463)
- Vinícius Almeida da Nóbrega
Institutions
- Universidade Federal da Paraíba (BR)
- Universidade Federal de Campina Grande (BR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-03-20
- DOI
- https://doi.org/10.1159/000545023
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00