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  • Title: [Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome].
    Author: Jing X, Zhang L, Li R, Zhang Y, Li F, Yi C, Liao C.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul 10; 36(7):672-675. PubMed ID: 31302908.
    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.
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