# DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis

## TL;DR

A 38-year-old woman was diagnosed with DiGeorge syndrome, highlighting the challenges of delayed diagnosis in low-resource settings.

## Contribution

This case study presents a late diagnosis of 22q11.2 deletion syndrome in an adult from a developing country.

## Key findings

- The patient had a 2.6-Mb deletion in the 22q11.2 region encompassing 62 genes.
- Delayed diagnosis led to referrals for cardiac evaluation due to a history of tachyarrhythmia.
- The case underscores the importance of genetic testing in diagnosing 22q11.2 deletion syndrome.

## Abstract

22q11.2 deletion syndrome (22.q11.2 DS) is a genetic syndrome resulting from a microdeletion on chromosome 22. It has a diverse array of manifestations, and most cases are diagnosed early in childhood. We present the case of a 38-year-old female born in a developing country who presented to our clinic to establish care for a history of primary hypothyroidism. She was clinically and biochemically euthyroid on thyroid supplementation. She was also noted to have hypocalcemia in the setting of low PTH, for which the patient was previously prescribed calcitriol. Given a history of cleft palate, abnormal facial features, mild recurrent sinopulmonary infections, and her endocrine history (including short stature with height in the 6th percentile), genetic testing was obtained. She was diagnosed with a heterozygous whole gene deletion of the TBX1 gene. Additional genetic evaluation demonstrated a 2.6-Mb microdeleted segment of the 22a11.2 region encompassing 62 genes. The patient was referred to cardiology for evaluation of cardiac involvement given a history of tachyarrhythmia. This case highlights challenges in diagnosis and the implications of a delayed diagnosis of 22.q11.2 DS.