Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome / 中华医学遗传学杂志

ABSTRACT

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.