【摘要】 本文报道1例5号染色体短臂末端微缺失导致的猫叫综合征患儿的临床表现、辅助检查、实验室检测及基因检测结果，并进行文献复习为疾病诊疗提供参考依据。患儿，女，6月龄，因“猫样哭声、生长迟缓、喂养困难”入院，经全外显子高通量测序确认染色体5p15.31-5p15.33上存在约6.29 Mb的拷贝数缺失。文献复习提示新发突变为该病发生的主要原因，基因型与表型相关分析表明，TERT、IRX1基因的缺失与患儿生长发育迟缓和神经发育迟缓密切相关。更多还原

【Abstract】 This article reports the clinical manifestations, auxiliary examinations, laboratory tests and genetic test results of a child with Cri-du-chat syndrome caused by a microdeletion at the end of the short arm of chromosome 5, and conducted literature review to provide a reference for disease diagnosis and treatment. A female child of 6 months old was admitted to the hospital due to “cat-like crying, growth retardation, and feeding difficulties”. Whole-exome high-throughput sequencing confirmed that there was a copy number deletion of approximately 6.29 Mb on chromosome 5p15.31-5p15.33. A review of the literature suggested that new mutations are the main cause of the disease. Correlation analysis between genotype and phenotype showed that deletion of TERT and IRX1 genes is closely related to growth retardation and neurodevelopmental delay in children.更多还原