The 2q37.2 microdeletion syndrome is a rare contiguous gene deletion characterized by hypotonia, early-onset obesity, developmental delay, and craniofacial dysmorphism. Reports from the Indian subcontinent remain limited, despite being documented in the global literature. We describe the case of a 10-year-old boy diagnosed with 2q37.2 microdeletion syndrome through a high-resolution chromosomal microarray. This report gives a comprehensive approach to this rare case, adding to the limited pool of reported Indian patients, and a clinico-genetic correlation with previously reported cases, overlapping this deletion. We aim to expand the phenotypic spectrum of 2q37 microdeletion syndrome. Our report underscores the importance of considering chromosomal microdeletion syndromes in children presenting with neurodevelopmental delay, obesity, and syndromic features.
Balakrishnan et al. (Tue,) studied this question.