All issues > Volume 38(12); 1995

Original Article

J Korean Pediatr Soc. 1995;38(12):1603-1609. Published online December 15, 1995.

Clinical Stududy of CATCH 22

Hye Soon HS Kim¹, Ho Sung HS Kim¹, Jung Il JI Rho¹, Jung Yeun JY Choi¹, Young Soo YS Yun¹, Jung Sun JS Kim², Jeong Wook JW Seo²

¹Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
²Department of Pathology, Seoul National University College of Medicine, Seoul, Korea

Abstract

The recognition that deletion of 22ql1 is a common cause of varied malformations and clinical disorders took more than a decade to achieve. Deletions of chromosome 22ql1 have been seen in association with DiGeorge syndrome (DGS) and velo¡ⓒ cardio-facial syndrome (VCFS). The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggest an aetiological connection. CATCH 22 synd¡ⓒrome is characterized by cardac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia resulting from 22ql1 deletions which includes DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly facial syndrome. Cardiovascular anomalies in CATCH 22 mainly consist of cardiac outflow tract defects or aortic arch anomalies such as tetralogy of Fallot, truncus arteriosus, and interruption of aortic arch. The frequency of association with deletion within chromosome region 22q11 is more than 80%. We report the clinical findings in 7 cases.

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