Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications
This case highlights the importance of using multiple genetic platforms to uncover complex chromosomal rearrangements and their impact on neurodevelopmental disorders. The findings underscore the need for thorough genetic counseling, especially in families with such rare chromosomal alterations, to manage reproductive outcomes and neurodevelopmental risks.
Authors
- Juan Clinton Llerena (ORCID: https://orcid.org/0000-0002-4308-3841)
- Ingrid Bendas Feres Lima
- Patricia C. Mazzonetto
- Elenice Ferreira Bastos (ORCID: https://orcid.org/0000-0002-5991-788X)
- Letícia da Cunha Guida (ORCID: https://orcid.org/0000-0003-3543-1532)
- Daniela Koeller Rodrigues Vieira (ORCID: https://orcid.org/0000-0002-2717-2342)
- Carla Rosenberg (ORCID: https://orcid.org/0000-0003-3253-4448)
- Leonardo Henrique Ferreira Gomes (ORCID: https://orcid.org/0000-0002-1721-0608)
- Carlos Roberto da Fonseca
Institutions
- Universidade de São Paulo (BR)
- Secretaria Municipal de Saúde (BR)
- DASA (Brazil)
- Fundação Oswaldo Cruz (BR)
Publication Details
- Journal
- Genes
- Published
- 2024-11-29
- DOI
- https://doi.org/10.3390/genes15121546
- Citations
- 2
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Fundação Oswaldo Cruz