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9q22.3 MICRODELETION IN A FEMALE CHILD WITH GLOBAL DEVELOPMENTAL DELAY AND PHYSICAL ANOMALIES: A CASE REPORT

2025-05-01

Abstract excerpt

Abstract <h4>Introduction: </h4> The 9q22.3 microdeletion syndrome is a rare chromosomal disorder associated with developmental delays, congenital anomalies, and phenotypic overlap with Gorlin syndrome. Clinical variability complicates diagnosis, necessitating advanced genetic testing. Case Report A 13-month-old female presented with global developmental delay, macrocephaly (>97th percentile), and dysmorphic feat...

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Literature Corpus work: 71bc3b15-a52c-5395-9195-6ac7bfba5739
DOI: 10.22541/au.174608475.54966517/v1

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