# A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review

## TL;DR

A nine-year-old girl with a rare 20p12.3 microdeletion syndrome is reported, showing various physical and metabolic symptoms.

## Contribution

This case report expands the understanding of 20p12.3 microdeletion syndrome through a detailed clinical description.

## Key findings

- The patient exhibited growth faltering, seizures, and dysmorphic features linked to the 20p12.3 deletion.
- Metabolic disturbances included hypoglycemia and high anion gap metabolic acidosis.
- Low IGF1 levels persisted despite growth hormone therapy for short stature.

## Abstract

Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed with 20p12.3 microdeletion syndrome. Genetic testing revealed a deletion spanning 3.5 Mb and containing 31 genes. The patient presented with a range of clinical manifestations, including growth faltering, short stature, controlled seizure disorder, dysmorphic features, and metabolic disturbances. Regarding dysmorphic features, she presented with malar hypoplasia, a high arched palate, microstomia, long philtrum, proptosis, and retrognathia. Metabolic disturbances were primarily manifested as episodes of hypoglycemia with a high anion gap metabolic acidosis. Despite receiving growth hormone therapy as management for short stature, the patient exhibited low levels of insulin-like growth factor 1 (IGF1). This case report adds to the limited body of knowledge regarding 20p12.3 microdeletion syndrome.