10q22.3q23.2微缺失家系的遗传学分析及产前诊断

Genetic testing and prenatal diagnosis for a family with 10q22.3q23.2 microdeletion

目的对1例表现为轻度智力低下、特殊面容的孕妇进行遗传学分析,并为其提供产前诊断。方法采用常规G显带染色体核型分析和单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)检测对孕妇夫妇外周血及其羊水样本进行分析。结果孕妇夫妇外周血及羊水样本核型分析均未见异常,SNP-array检测提示孕妇携带10q22.3q23.2区7.801 Mb缺失,涉及CDHR1、BMPR1A、NRG3、GRID1、LDB3等18个OMIM基因,与面容异常、发育迟缓、智力低下、自闭症相关。胎儿亦携带相同区域的7.819 Mb缺失,父亲检测结果未见异常。结论孕妇和胎儿均携带10q22.3q23.2微缺失,明确病因后可指导其再生育。

Objective To carry out genetic testing for a pregnant woman with mild mental retardation,facial dysmorphism,and a history of adverse pregnancies and provide prenatal diagnosis for her.Methods Routine G-banded karyotyping and single nucleotide polymorphism microarray(SNP-array)analysis were performed on the couple and amniotic fluid sample.Results No karyotypic abnormality was found with the couple and amniotic fluid sample.SNP-array analysis showed that the woman has carried a 7.801 Mb microdeletion in 10q22.3q23.2,which involved 18 OMIM genes including CDHR1,BMPR1A,NRG3,GRID1 and LDB3,which are associated with facial abnormalities,developmental retardation,mental retardation and autism.The fetus also carried a 7.819 Mb deletion in the same region,while the father showed no abnormality.Conclusion Both the pregnant woman and her fetus have carried a 10q22.3q23.2 microdeletion,which has provided guidance for her subsequent pregnancy.