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Xiamixinuer, Tuokan, ZHAO Rong-zhi (Biology Teaching and Studying Office, Clinical College, Xinjiang Medical University, Urumqi 830054, China)
Abstract: Objective: To analyze the karyotypes with suspicious chromosome aberrations and to provide a basis for diagnosing human chromosomal diseases as well as for clinical diagnosis. Methods: The karyotypes were analyzed using chromosome banding, which is the standard method for identifying numerical and structural chromosomal aberrations in cytogenetics laboratories. We used general G-banding cytogenetic techniques to diagnose 500 cases from the clinical service of genetic counseling and also from inpatients. Results: There were 123 abnormal karyotypes among the 500 cases (24.6%). There were 70 cases of mental retardation (56.9%), 27 cases of abortion (21.9%), 21 cases of gonadal dysgenesis (17.1%), and 5 cases of patients who had a history of abnormal birth (4.1%). Conclusion: The results suggest that mental retardation and abortion among the patients adversely affect the hereditary predisposition of the population in Xinjiang. Enough attention should be paid to such a situation.
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