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目的检测1例不明原因智力低下(mental retardation,MR)患儿的基因组不平衡,寻找其致病原因。方法经常规G显带核型分析,发现患儿核型为46,XX,del(1)(q25-q31)后运用微阵列比较基因组杂交(array-based comparative genomic hy-bridyzation,array-CGH)技术对患儿进行全基因组高分辨率扫描,对缺失区域的位置和大小作精确分析。结果 array-CGH结果证实了患儿基因组存在一个病理性的拷贝数变异:del(1)(q25.1-q31.3)(172 832 580-193 394 460,～20.561Mb)。结论 del(1)(q25.1-q31.3)是此患儿真正的致病原因;array-CGH技术具有高分辨率、高准确性等优点,有利于基因组异常的检测和临床遗传咨询。
Objective To detect the genomic imbalance in children with mental retardation (MR) and find out the cause of the disease. Methods The conventional G-banding karyotype analysis showed that children with karyotype 46, XX, del (1) (q25-q31) were detected by array-based comparative genomic hy bridging (array- CGH) Technique to perform full-genome high-resolution scan on children with precise analysis of the location and size of the missing area. Results The results of array-CGH confirmed that there was a pathological copy number variation in the pediatric genome: del (1) (q25.1-q31.3) (172 832 580-193 394 460, ~ 20.561 Mb). Conclusion del (1) (q25.1-q31.3) is the real cause of this disease. The array-CGH technique has the advantages of high resolution and high accuracy, which is good for the detection of genomic abnormalities and clinical genetic counseling.