To report a pediatric case of 1q25.3–q32.1 deletion, enhance clinicians’ awareness of this rare disorder, and provide clinical evidence for genotype–phenotype correlation analysis.
Approach:
Key Findings:
The patient exhibited intrauterine growth restriction, feeding difficulties, and developmental delays.
Karyotype analysis revealed a 46,XY,del(1)(q23.3q25.3) with a 27.0-Mb deletion.
Common features in 31 cases reviewed included growth retardation, microcephaly, facial dysmorphism, and neurodevelopmental delays.
Key genes in the deleted region (e.g., CENPL, LHX4, DNM3, PBX1) are associated with the clinical phenotype.
Interpretation:
Deletion of 1q25.3–q32.1 is linked to specific phenotypic features, highlighting the need for early suspicion and diagnosis in cases of developmental delays and growth issues.
Limitations:
The study is based on a single case and a limited number of literature reports, which may affect the generalizability of the findings.
Variability in clinical presentation may complicate genotype–phenotype correlation.
Conclusion:
1q25.3–q32.1 deletion is a rare chromosomal rearrangement with significant clinical implications; early chromosomal microarray analysis is recommended for diagnosis to improve patient outcomes.
