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Transient congenital hypoparathyroidism and 22q11 deletion
E García-García1, J Camacho-Alonso, M J Gómez-Rodríguez
1Pediatric Endocrinology Unit, Hospital Carlos Haya, Málaga, Spain. EMIGAGA@santandersupernet.com
Journal of Pediatric Endocrinology & Metabolism : JPEM
|July 25, 2000
Abstract:
CATCH-22 syndrome represents a spectrum of abnormalities associated with microdeletions of chromosome 22q11. We report a patient with transient congenital hypoparathyroidism, with severe neonatal hypocalcemia and spontaneous resolution in infancy, tetralogy of Fallot and thymic hypoplasia. Genetic confirmation of chromosome 22q11 deletion was made. Newborns with congenital hypoparathyroidism need genetic analysis and examination for anomalies associated with CATCH-22 syndrome.