Chromosome 4q deletion syndrome: 4q13.3-q21.23 deletion syndrome with mental retardation, congenital heart disease: a case report and literature review

Abstract

Abstract Objective. Chromosome 4q deletion syndrome is a rare disease, and the reported genotypes cannot fully explain the clinical manifestations. This article aims to present a case that provides ideas for the clinical diagnosis of similar conditions, by adding new genotypes to the 4q deletion fragment gene pool. Case presentation.A female child aged 7-month and 3-day-old was born after repeated treatments for “cleft palate, atrial septal defect, mixed deafness, corpus callosum developmental malformation” and other diseases. By searching the PubMed, and Web of Science, CNKI, the published literature on chromosome 4 deletion was sorted and analyzed. Whole-genome sequencing,which was diagnosed as 4q13.3-q21.23 deletion syndrome. Conclusion.The diagnosis of congenital heart defects, progressive growth retardation, and mental retardation with multisystem involvement, and deletion of a gene fragment of chromosome 4 became a disorder to be considered in clinical work. Timely analysis of genetic findings could help confirm the diagnosis.