Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome

Objective To explore the genetic basis for three patients with development delay and to correlate their clinical phenotypes with genetic findings. Methods The karyotypes of the probands and their parents were analyzed by conventional G-banding. Chromosomal microarray analysis (CMA) was used to detect microdeletion and microduplication. Results No kartotypic abnormality was detected in the patients and their parents. CMA analysis identified a de novo 3.10 Mb deletion on chromosome 15q24.1q24.2 in case 1, a de novo 3.14 Mb deletion at 15q24.1q24.2 in case 2, and a 3.13 Mb deletion at 15q24.1q24.2 in case 3. All deletions have encompassed the CPLX3, SEMA7A and SIN3A genes. Conclusion The three patients were diagnosed with 15q24 microdeletion syndrome. CPLX3, SEMA7A and SIN3A may be the key genes responsible for this syndrome. Key words: 15q24 microdeletion syndrome; Chromosomal microarray analysis; Copy number variation