Abstract：Objective To provide laboratory basis for genetic counseling and reproductive guidance through investigating the types and clinical manifestations of sporadic chromosomal aberrations in peripheral blood. Methods Peripheral blood chromosome examination specimens detected in the Reproductive Hospital of Guangxi Zhuang Autonomous Region from January 2015 to November 2019 were retrospectively analyzed. Relevant medical records and types of aberrations of patients with sporadic chromosomal aberrations were collected for genetic analysis. Results A total of 129 cases (1.5%) of sporadic chromosomal aberrations were detected in the specimens of 8367 subjects, and the type of aberration was mainly translocation. Among them, t(7; 14) was the most common (15.5%), and 62 cases (48%) were correlated with abortion. Conclusion The clinical significance of sporadic chromosomal aberrations cannot be ignored. Prenatal diagnosis should be recommended for people with such chromosomal aberration in their reproductive actions.
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2020, Vol. 17 
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