应用染色体微阵列技术检测1q43-q44缺失综合征

Prenatal diagnosis of 1q43-q44 deletion syndrome by chromosomal microarray analysis

目的探讨1q43-q44缺失综合征的临床表型及致病基因。方法对基因组拷贝数变异(copy number variation,CNV)进行分析。结果患者染色体1q43-q44区域存在约3.1Mb大小的缺失,涉及AKT3、ZBTB18及HNRNPU等基因,且与1q43-q44缺失综合征表型高度相关。结论 1q43-q44缺失综合征存在不完全外显及表现度差异,应结合超声检查、羊水染色体核型及CMA检测进一步产前诊断。

Objective To explore the clinical phenotype and pathogenic genes of1q43-q44deletion syndrome.Method Routine karyotype analysis of amniotic cells and chromosome microarray analysis(CMA)were performed,which followed by the genomic copy number variation analysis(CNV).Results About3.1Mb ofdeletion on1q43q44was detected and AKT3,ZBTB18,HNRNPU genes which located on this region were highly correlated with the phenotype of1q43-q44deletion syndrome.Conclusions Incomplete penetrance and variable expressivity of1q43-q44deficiency syndrome were exhibited.And further prenatal diagnosis should be considered in combination with ultrasonography,chromosome karyotype analysis and CMA.