Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

ABSTRACT Background Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. Methods In this study, we conducted peripheral blood chromosome G‐banding karyotyping and whole‐exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G‐banding karyotyping was also carried out on the proband's parents and brother. Results The 7‐month‐old proband was found to have a 26.738 Mb 4p15.33‐p14 deletion as identified by chromosome G‐banding karyotyping and WES. Conclusion 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.