核型分析联合CNV-seq技术产前诊断Pallister-Killian综合征胎儿1例
Prenatal diagnosis of a Pallister-Killian syndrome case through karyotype analysis and copy number variation sequencing technique
刘晓飞 1高明雅 1臧伟伟 1王亚男1
作者信息
- 1. 洛阳市妇幼保健院医学遗传与产前诊断科,河南洛阳 471000
- 折叠
摘要
目的 对1例产前超声提示多发异常的胎儿进行遗传学诊断,明确病因并提供遗传咨询.方法 采集孕妇羊水细胞,分别应用常规G显带核型分析及CNV-seq测序技术对胎儿进行遗传学检测.结果 经细胞染色体分析,胎儿核型初步明确为47,XN,+mar[49]/46,XN[11].CNV-seq结果提示胎儿12p13.33q11区域存在37.8 Mb重复,拷贝数为3.5.结合分子结果,最终确定胎儿核型结果为47,XN,+idic(12)(q11)[49]/46,XN[11].结论 胎儿携带有i(12p)嵌合四体,结合核型及分子结果,可诊断为Pallister-Killian综合征,可能导致严重的临床表型.
Abstract
Objective To identify the cause and provide genetic counseling,making a genetic diagnosis of a fetus with multiple abnormalities indicated by prenatal ultrasonography.Methods Amniotic fluid cells were harvested from preg-nant individuals,and fetal genetics were investigated via conventional G-band karyotype analysis and copy number variation sequencing(CNV-seq)technology.Results Through cell chromosome analysis,the fetal karyotype was preliminarily identi-fied as 47,XN,+mar[49]/46,XN[11].The CNV-seq results indicated that there were 37.8 Mb replicates in the fetal 12p13.33q11 region with a copy number of 3.5.Combined with the molecular results,the fetal karyotype result was finally determined to be 47,XN,+idic(12)(q11)[49]/46,XN[11].Conclusion The fetus carrying i(12p)chimeric tetrameric bodies,combined with karyotype and molecular results,can be diagnosed as Pallister-Killian syndrome,which may lead to severe clinical phenotype.
关键词
染色体核型分析/CNV-seq/产前诊断/标记染色体/Pallister-Killian综合征Key words
karyotype analysis/CNV-seq/prenatal diagnosis/marker chromosome/Pallister-Killian syndrome引用本文复制引用
出版年
2024
NETL
NSTL
万方数据