论文部分内容阅读
目的:探讨1例涉及n FOXG1基因的14q12q13.1缺失患儿的临床及分子生物学特征。n 方法:分析患儿的临床表现，对其进行外周血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。分析n FOXG1相关疾病基因型与表型的相关性。n 结果:患儿为男性，出生后第8天出现喂养困难，表现为吸吮无力，同时出现下肢抖动、额部青紫，磁共振成像显示双侧侧脑室明显增宽、胼胝体发育不良。染色体核型为46，XY，del(14)(q12q13.1)，SNP-array检测显示患儿存在14q11.2q13.1区9.6 Mb的缺失，涉及n FOXG1等基因。n 结论:对大脑发育异常并具有运动、认知、语言障碍等的患者，应警惕n FOXG1基因的拷贝数变异，及早进行SNP-array检测以明确诊断。n “,”Objective:To describe the clinical and genetic characteristics of a child with 14q12q13.1 deletion involving the n FOXG1 gene.n Methods:Clinical manifestation of the child was analyzed. Peripheral blood sample of the patient was subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.Results:The male infant has developed feeding difficulty, poor sucking, lower limb tremor, and frontal bruising 8 days after birth. Magnetic resonance imaging revealed significant enlargement of bilateral ventricles and corpus callosum dysplasia. Chromosomal analysis revealed a karyotype of 46, XY, del(14)(q12q13.1), and SNP-array confirmed that there was a 9.6 Mb deletion in 14q11.2q13.1, which encompassed the n FOXG1 gene.n Conclusion:For patients with brain development abnormalities, dyskinesia, cognitive impairment, speech disorder and other manifestations, copy number variation of the n FOXG1 gene should be excluded. SNP-array should be carried out as early as possible to attain the diagnosis.n