Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.
Ying PangLan ZengHua LiangChunlan ChengLihui ShanJin WangNanjing JiangGuanghuan PiLi YangAi ChenFu XiongShuyao ZhuPublished in: Molecular genetics & genomic medicine (2024)
We identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome.