| Clinical Stududy of CATCH 22 |
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Hye Soon Kim1, Ho Sung Kim1, Jung Il Rho1, Jung Yeun Choi1, Young Soo Yun1, Jung Sun Kim2, Jeong Wook Seo2 |
1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
2Department of Pathology, Seoul National University College of Medicine, Seoul, Korea |
| Chromosome 22P11 결손을 가진 CATCH 22 환자의 임상 고찰 |
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김혜순1, 김호성1, 노정일1, 최정연1, 윤용수1, 김정선2, 서정욱2 |
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 해부병리학교실 |
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| Abstract |
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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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