分类号：R714.55
出版年·卷·期（页码）：2018·10·第3期（21-24）
DOI:
10.13470/j.cnki.cjpd.2018.03.006
-----摘要：-------------------------------------------------------------------------------------------
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。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To explore the clinical phenotype and pathogenic genes of 1q43-q44 deletion 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 About 3.1Mb of deletion on 1q43q44 was detected and AKT3, ZBTB18, HNRNPU genes which located on this region were highly correlated with the phenotype of 1q43-q44 deletion syndrome. Conclusions Incomplete penetrance and variable expressivity of 1q43-q44 deficiency syndrome were exhibited. And further prenatal diagnosis should be considered in combination with ultrasonography, chromosome karyotype analysis and CMA.
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胡蓉,杜娜,罗晓辉,卢建,李怡,黄伟伟,.应用染色体微阵列技术检测1q43-q44缺失综合征.中国产前诊断杂志,2018,10(3):21-24.
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