摘要目的 通过对1例临床疑似Angelman综合征(Angelman syndrom,AS)患儿的确诊,实现对患者家系的诊断以及产前诊断.方法 应用比较基因组杂交芯片(array comparative genome hybridization,array-CGH)和荧光原位杂交(fluorescence in situ hybridization,FISH)等技术对患者及家系进行检测.结果 患儿染色体核型分析未发现异常,基因芯片分析结果显示15q11.1-11.2区段丢失,荧光原位杂交证实患者在15q11.2处存在杂合性缺失;患者父母双方核型分析以及基因芯片分析均未发现异常,患儿母亲再次怀孕进行羊水穿刺,染色体核型分析未发现异常,羊水基因芯片分析结果显示8p23.1p22区段存在杂合丢失,未发现其它染色体区域的明显异常,孕妇超声系统检查未提示异常,产前检查未发现异常表型,建议继续妊娠,足月分娩一正常儿.结论 结合临床症状、基因芯片和FISH等方法可确诊AS患者,为临床提供准确的遗传咨询和产前诊断.

abstractsObjective To verify the diagnosis of Angelman syndrome(AS) in a proband in order to provide prenatal diagnosis for his family.Methods Array comparative genome hybridization(array-CGH) and fluorescence in situ hybridization(FISH) on metaphase chromosomes were performed.Results The karyotype of the proband was normal, and a regional deletion of 15ql 1.1-11.2 was detected by array-CGH.FISH analysis has confirmed loss of heterozygosity in 15q11.2.No positive results were obtained by arrayCGH or karyotype analysis.Amniotic fluid sample was taken from the proband' s mother upon her subsequent pregnancy.The karyotype of the fetus was normal, but SNP microarray chip analysis has identified loss of heterozygosity in 8p23.1-p22.As no abnormality was observed by ultrasound and other prenatal examinations, the pregnancy was recommended to continue to full-term, and a healthy infant was born.Conclusion Clinically suspected AS can be diagnosed by array CGH and FISH.The result may facilitate accurate genetic counseling and prenatal diagnosis for the affected family.