摘要
目的产前诊断一例胎儿羊水细胞染色体核型结果为46,XN,del(18)(p11.2)?,利用染色体微阵列技术(chromosomal microarray analysis,CMA)进一步分析及验证。方法胎儿羊水行染色体G显带核型分析,并进行CMA检测验证核型分析的结果。结果胎儿羊水染色体320条带下结果为46,XN,del(18)(p11.2)?。Affymetrix CytoScan 750K Array染色体微阵列技术结果为:arr[hg19]18p11.32(136,227-2,548,101)x1;arr[hg19]18p11.32p11.21(2,548,667-15,170,636)x3;显示胎儿18号染色体18p11.32区段存在2.4 Mb片段的缺失,同时,18 p11.32p11.21区段存在12.6Mb片段的重复。结论 CMA技术可以精确定位断裂点,定位到常规G显带无法定位的胎儿18p部分单体,以及鉴别常规G显带无法查出的胎儿18p部分三体,在胎儿期诊断出可疑致病基因并分析表型与基因型的关系。
Objective:To analyze and diagnosis the chromosome karyotype of a case of fetal amniotic cell results were as follows:46,XN,del(18)(p11.2)?,Chromosomal microarray analysis(CMA)was used for development and verify the source.Methods:The fetus’ s chromosome was analyzed and verified using karyotype analysis and CMA.Results:G-binding analysis showed a chromosome karyotype of 46,XN,del(18)(p11.2)?.The Affymetrix CytoScan 750K Array CMA analysis detected a 2.4Mb chromosome fragment deletion of 18p11.32(arr[hg19]18p11.32(136,227-2,548,101)x1),and a 12.6Mb chromosome fragment duplication of 18p11.32p11.21(arr[hg19]18p11.32p11.21(2,548,667-15,170,636)x3).Conclusion:CMA technology can accurately locate the fracture point,Locating the 18p partial monomer that could not be located by conventional G banding.And to identify 18p partial trisomy,the short arm of fetal chromosome 18,which cannot be detected by normal G banding.Diagnosis of suspicious pathogenic genes during fetal period and analysis of the relationship between phenotype and genotype.
作者
赵敏
ZHAO Min(Medical Genetics center,Huaihua Maternal and Child Health Care Hospital,Huaihua,Hunan 418000)
出处
《中国优生与遗传杂志》
2020年第11期1335-1337,共3页
Chinese Journal of Birth Health & Heredity
