9q22.3 Microdeletion in a Female Child with Global Developmental Delay and Physical Anomalies: A Case Report
DOI:
https://doi.org/10.56147/jmcscr.1.1.5Keywords:
- 9q22.3 microdeletion,
- Chromosome 9,
- Developmental delay,
- Congenital anomalies,
- Chromosome deletion syndrome
Abstract
Introduction: 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 features, including frontal bossing, flat nasal bridge, left-hand polydactyly, toe overcrowding and a café-au-lait spot. Motor delays (head control at 7.5 months, independent sitting at 13 months) contrasted with emerging bisyllabic speech. Brain MRI showed reduced white matter and a thin corpus callosum. Whole exome sequencing identified a heterozygous 7,280.56 KB deletion at 9q22.31-q22.33 (De Novo origin). Confirmatory testing was unavailable due to resource constraints.
Discussion: This case broadens the phenotypic spectrum of the syndrome by introducing features such as toe overcrowding and café-au-lait spots. The absence of classic Gorlin syndrome characteristics, along with the lack of overgrowth traits, highlights the gene-specific variability in this condition. The patient's speech development, which differs from the typical delays seen in similar cases, further emphasizes the heterogeneity of the syndrome. Additionally, the overlap with PTCH1 mutations points to the importance of ongoing tumor surveillance. Finally, the limitations in available resources underscore the diagnostic challenges faced in low-resource settings.
Conclusion: Comprehensive genetic testing is vital for children with developmental delays and dysmorphic features, as it aids in accurate diagnosis and the identification of novel findings. These discoveries enhance diagnostic precision and inform personalized interventions, which, when coupled with multidisciplinary care, improve overall outcomes. Global disparities in genetic diagnostics highlight the need for greater accessibility to testing. Early diagnosis enables timely interventions and supports informed family planning.
