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.

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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
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article

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

Matam Kavita, Iravathy Goud, Surya Balakrishnan, Khyati Arora et al.
Apollo Medicine
Genomic variations and chromosomal abnormalities
article

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

Matam Kavita, Iravathy Goud, Surya Balakrishnan, Khyati Arora, Soumya Sharma
article en

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.

Apollo Medicine
Apollo Hospitals (IN), Apollo Hospitals (IN)
Openalex Percentile: Top 87%
Genomic variations and chromosomal abnormalities
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