摘要
目的探讨染色体微阵列分析(CMA)、荧光原位杂交(FISH)和染色体核型分析技术在疑难病例中的诊断价值。方法以新生儿科的一名住院患者为研究对象,采集外周血进行染色体核型分析,用CMA技术检测基因组拷贝数变异(copy number variations,CNVs),并用FISH技术对存在的微缺失/微重复位点进行验证;因CMA检测结果提示患者存在基因组的微缺失/微重复,故采集患者父母的外周血进行染色体核型分析,以辅助诊断患者染色体异常的遗传来源。结果患者染色体核型分析结果为46,XY,CMA检测结果提示患者15号染色体15q11.2q12区段存在3.8 Mb缺失,21号染色体21q11.2q22.11区段存在19.8 Mb重复,患者染色体核型分析结果存在漏诊。患者母亲染色体核型分析结果为46,XX,患者父亲染色体核型分析结果为46,XY,t(15;21)(q12;q22.11)。通过FISH技术验证确认患者染色体核型为非平衡易位,正确结果应为:46,XY,-15,+der(21)t(15;21).ish der(21)t(15;21)(q12;q22.11)pat。结论对染色体核型分析可疑的核型结果,应联合多种分子技术进行检测,降低单独应用染色体核型分析的漏诊风险。
Objective Exploring the diagnostic value of chromosomal microarray analysis(CMA),fluorescence in situ hybridization(FISH),and chromosomal karyotype analysis techniques in difficult cases.Methods A hospitalized patient in the neonatology department was selected as the research object.Peripheral blood was collected for chromosome karyotyping analysis.Chromosome microarray analysis(CMA)technology was used to detect copy number variations(CNVs)in the genome,and fluorescence in situ hybridization(FISH)technology was used to verify the presence of microdeletion/microduplication sites.Due to the CMA test results indicating the presence of genomic microdeletions/microduplications in the patient,peripheral blood samples from the patient’s parents were collected for chromosomal karyotyping analysis to assist in diagnosing the genetic source of chromosomal abnormalities in the patient.Results The result of the patient’s chromosome karyotyping analysis is 46,XY,and CMA test results indicate that there is a 3.8 Mb deletion in the 15q11.2q12 segment of chromosome 15,and a 19.8 Mb duplication in the 21q11.2q22.11 segment of chromosome 21.The patient’s chromosome karyotyping analysis results have missed diagnosis.The chromosome karyotype analysis results of the patient’s mother are 46,XX,and the chromosome karyotype analysis results of the patient’s father are 46,XY,t(15;21)(q12;q22.11).Through FISH technology verification,it was confirmed that the patient’s chromosome karyotype is imbalanced translocation.The correct result should be 46,XY,-15,+der(21)t(15;21).ish der(21)t(15;21)(q12;q22.11)pat.Conclusion Multiple molecular techniques should be combined to detect suspicious karyotype results in chromosome karyotype analysis,in order to reduce the risk of missed diagnosis when using chromosome karyotype analysis alone.
作者
马晓蓉
郭晓利
李慧君
魏洁
代文成
MA Xiaorong;GUO Xiaoli;LI Huijun;WEI Jie;DAI Wencheng(Prenatal diagnosis center,Urumqi Maternal and Child Health Hospital,Urumqi,Xinjiang 830000,China)
出处
《中国优生与遗传杂志》
2024年第9期1872-1875,共4页
Chinese Journal of Birth Health & Heredity
基金
新疆维吾尔自治区自然科学基金(2018D01A50)。
