A Case of Cri-du-chat Syndrome and Literature Review
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.
Cri-du-chat syndrome5p deletion syndromegenotype and phenotypeTERT gene1RX1 gene
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