摘要
目的报告一例7q11.23重复综合征胎儿,探讨多种产前诊断技术的联合应用价值,为患者提供可靠的遗传咨询。方法采集1例孕中期胎儿的羊水行染色体核型分析,并提取羊水DNA,进行BoBs检测和单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP array)检测。结果胎儿羊水细胞染色体核型未见异常;BoBs检测结果提示胎儿7q11.23区域可见重复;SNP array检测结果显示胎儿7q11.23区段存在1.4Mb片段的重复,提示arr[hg19]7q11.23(72,701,098-74,162,823)×3。结论染色体核型分析联合BoBs检测,并用SNP array验证,明确诊断一例7q11.23重复综合征胎儿,在产前诊断中具有较好的应用价值。
Objective:A case of 7q11.23 duplication syndrome is reported,to explore the combined application value of various prenatal diagnosis techniques and provide reliable genetic consultation for patients.Methods:Amniocentesis was performed in the second trimester for chromosome karyotype analysis.DNA from amniotie fluid sample was isolated for BoBs assay and single nucleotide polymorphism array.Results:Chromosomal analysis suggested that the fetus had a normal karyotype,while a duplication of 7ql1.23 was detected by the BoBs assay.SNP array revealed a 1.4 Mb duplication in chromosome7q11.23.Conclusion:A case of 7q11.23 duplication syndrome was diagnosed by chromosome karyotype analysis combined with BoBs assay and verified by SNP array.It has a good application value in prenatal diagnosis.
作者
罗婷婷
曾艳
钱飞燕
张丽芳
金瑶翔
LUO Ting-ting;ZENG Yan;QIAN Feiyan;ZHANG Li-fang;JIN Yao-xiang(Shaoxing maternal and child health care hospital ShaoXing,ZheJiang 312000)
出处
《中国优生与遗传杂志》
2020年第8期948-949,共2页
Chinese Journal of Birth Health & Heredity
