9p13.3 Syndrome: A Rare and Unusual Genetic Cause of Tremor in a Young Indian Boy
Tremor is a heterogeneous symptom and may be caused by genetic and non-genetic causes. Tremors in the paediatric age group associated with other features may be suggestive of a syndromic diagnosis. We describe the case of a 13-year-old boy who presented to the neurology department with progressive tremors. A reflex genetic evaluation revealed mild-moderate intellectual disability, subtle dysmorphic features and action-induced coarse tremors. A high-resolution chromosomal microarray confirmed the presence of 9p13.3 microdeletion syndrome. We delineate the core features of this syndrome and provide a comparison of all the reported features associated with this contiguous deletion syndrome.
Authors
- Matam Kavita
- Iravathy Goud
- Surya Balakrishnan (ORCID: https://orcid.org/0000-0001-8563-8553)
- Khyati Arora
- Soumya Sharma
Institutions
- Apollo Hospitals (IN)
- Apollo Hospitals (IN)
Publication Details
- Journal
- Apollo Medicine
- Published
- 2026-01-16
- DOI
- https://doi.org/10.1177/09760016251408911
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00