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Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report
Chih-Hsuan Fu1, Cheung Leung2, Chuan-Hong Kao1
1Department of Pediatrics, Far Eastern Memorial Hospital, Panchiao, Taiwan, ROC.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|August 9, 2015
Summary
DiGeorge syndrome, caused by a 22q11.2 deletion, presents diverse symptoms. Recognizing extracardiac signs like hypocalcemia is crucial for diagnosing this often underestimated condition.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- DiGeorge syndrome, a condition linked to 22q11.2 microdeletion, encompasses a spectrum of disorders including velocardiofacial syndrome.
- Classic symptoms involve cardiac defects, facial anomalies, thymic hypoplasia, cleft palate, and hypocalcemia.
Observation:
- A 6-year-old girl presented with generalized seizures due to hypocalcemia.
- She had no neonatal hypocalcemia or cardiac defects, with parents reporting normal development prior to diagnosis.
Findings:
- The case underscores the significance of extracardiac manifestations in DiGeorge syndrome diagnosis.
- Many patients with minor facial dysmorphism may be undiagnosed.
Implications:
- Early identification and intervention are vital for affected individuals.
- Multiplex ligation-dependent probe amplification offers a rapid, cost-effective diagnostic method for 22q11.2 deletions.
