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

Ying Pang¹, Lan Zeng², Hua Liang³

¹Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.

Molecular Genetics & Genomic Medicine

|September 3, 2024

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.

Keywords:

chromosome 4p deletion developmental delay whole‐exome sequencing

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