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

Year: 2026

Type: article

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.

Source: Apollo Medicine

DOI: 10.1177/09760016251408911

Authors: Surya Balakrishnan, Soumya Sharma, Iravathy Goud, Matam Kavita, Khyati Arora

Institutions: Apollo Hospitals, Apollo Hospitals, Apollo Hospitals

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7124444365

FWCI:

Cites: 7

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