应用CMA诊断14q32微缺失综合征

Diagnosis of 14q32 microdeletion syndrome by CMA

目的探讨14q32微缺失综合征的临床表现,进一步提高对该疾病的认识及对该疾病的产前及遗传学诊断。方法对1例因“出生后口吐白沫伴气促1天”入院的胎儿进行遗传学诊断,结合常规染色体G显带分析及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)技术进行分子细胞遗传学检测,并进行全基因组拷贝数变异分析。结果发现14号染色体14q32.2-q32.31位置发生缺失,片段大小约5.83Mb,包含128个基因。结论14q32印迹区域缺失可表现有“UPD(14)综合征”类似的临床症状,表现为Temple综合征或Kagami-Ogata综合征。

Objective To investigate the clinical manifestations of 14q32 microdeletion syndrome,and to further improve the understanding of this disease and the prenatal and genetic diagnosis of this disease.Methods A case of foaming at the mouth with shortness of breath for one day after birth was diagnosed by genetic method.Conventional G-banding analysis and single nucleotide polymorphism array(SNP-array)were used for molecular cytogenetic analysis,and genome-wide CNV analysis was performed.Results Chromosome 14 was deletions at 14q32.2-q32.31.The fragment size was about 5.83Mb and contained 128 genes.Conclusions The deletion of 14q32 imprinting region may present with clinical symptoms similar with“UPD(14)syndrome”,such as Temple syndrome or Kagami-Ogata syndrome.