9p13.3 Syndrome: A Rare and Unusual Genetic Cause of Tremor in a Young Indian Boy

Read full text
Authors: Surya Balakrishnan, Soumya Sharma, Kalal Iravathy Goud, Matam Kavita, Khyati Arora
Cited by: 0
References: 7

Abstract

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.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases

Publication details

Journal / source
Apollo Medicine
Publication date
16 January 2026
Language
EN