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238例染色体异常报告

238 samples report of patients with chromosome abnormality
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摘要 目的了解本地区染色体异常疾病的分布,并对相关疾病进行遗传学分析。方法采用培养的外周血淋巴细胞,常规方法制备染色体并对其进行核型分析。结果从1405例遗传咨询患者中,共检出异常染色体核型238例,检出率为16.94%;其中,常染色体异常152例,性染色体异常85例,两者分别占异常核型的63.87%和35.71%;21-三体综合征最为多见,占常染色体异常核型的85.53%,其次为Klinefelter综合征,占性染色体异常核型的75.29%。结论本地区染色体异常检出率高于国内部分地区。为降低出生缺陷率,应重视产前筛查及产前诊断。 Objective To investigate the distribution pattern of chromosome abnormality in local region and analyze its genetics aspect of corresponding diseases. Methods Preparation of chromosome derived from culturing periphera/blood lymphecytes were carried out following the routine procedure and the karyotype of prepared chromosome were analyzed. Results From total 1405 samples of genetic counseling patients, 238 samples were detected to have abnormal karyotype and the detection rate was 16.94%. Among 238 samples of chromosome abnormality, anomalism of 152/238 were autosome from which 85.53% were trisomy 21 syndrome(Down syndrom) and 85/238 were sex-chromosome for which Klinefelter syndrome accounted 75.27%. Conclusions The detection rate of chromosome abnormality in local area was higher than some other regions of our country. In order to lower the incidence of birth defect, prenatal screening and diagnosis should be emphasized.
出处 《遵义医学院学报》 2007年第3期274-276,共3页 Journal of Zunyi Medical University
关键词 染色体 异常核型 chromosome abnormal karyotype
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