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ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.
Microduplication 22q11.2 syndrome can cause varied symptoms, including congenital anomalies. This case highlights a 22q11.23 microduplication linked to esophageal atresia/tracheoesophageal fistula and ventricular septal defect.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Microduplication 22q11.2 syndrome presents with diverse clinical phenotypes.
- Esophageal atresia/tracheoesophageal fistula (EA/TEF) has been associated with Tbx1 gene mutations on chromosome 22q11.21.
Observation:
- A 1.4 Mb 22q11.23 microduplication was identified via array comparative genomic hybridization (array-CGH).
- The affected infant's father carried the same microduplication but exhibited a normal phenotype.
- The infant presented with type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect.
Findings:
- Array-CGH confirmed a 1.4 Mb interstitial microduplication at 22q11.23.
- The patient exhibited significant congenital anomalies including EA/TEF and VSD.
- Post-operative complications included pneumonia and recurrent TEF.
Implications:
- This case expands the known phenotypic spectrum of 22q11.2 microduplications.
- It underscores the variable expressivity of 22q11.2 microduplications, even within families.
- Further research is needed to understand the genetic and environmental factors influencing the phenotype in 22q11.2 duplication syndrome.
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