Heterozygous deletion of 10q24.31-q24.33– a new syndrome associated with multiple congenital anomalies: case report and literature review
This case underscores the importance of genetic analysis in understanding the etiology of congenital anomalies and neurodevelopmental disorders, providing critical insights into the molecular mechanisms driving complex phenotypes. The identified chromosomal deletion contributes to the existing literature on genomic imbalances associated with similar phenotypes.
Authors
- Dmitriy Korostin (ORCID: https://orcid.org/0000-0003-1343-2550)
- Anastasiia A. Buianova (ORCID: https://orcid.org/0000-0001-7894-9222)
- T. Kulichenko
- Artem A. Ivanov (ORCID: https://orcid.org/0000-0002-6137-6138)
- Yulia S. Lashkova
- Oleg N. Suchalko (ORCID: https://orcid.org/0000-0002-6974-2921)
- Svetlana Vakhlyarskaya
- Ivan S. Kuznetsov
- Olga P. Parshina (ORCID: https://orcid.org/0009-0007-5460-4984)
Institutions
- Pirogov Russian National Research Medical University (RU)
- Russian Children's Clinical Hospital (RU)
- Genetic Technologies (Australia) (AU)
Publication Details
- Journal
- Neurological Research and Practice
- Published
- 2025-04-06
- DOI
- https://doi.org/10.1186/s42466-025-00378-z
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Broad Institute
- Ministry of Science and Higher Education of the Russian Federation