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Original Article

22q11 Microdeletion and Clinico-Genetic Correlation in CATCH 22 Syndrome

Hong Ryang Kil, Young Ha Lee, Yong Hun Chung, Yong Hun Chung

Clin Exp Pediatr. 2000;43(12):1536-1544. Published online December 15, 2000

Purpose : Deletion of chromosome 22q11 is associated with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. This study was performed to determine the criteria of clinical phenotype as recognizable syndrome and to research the loss of heterozygosity in CATCH 22 patients and their family. Methods : An evaluation of the clinical and genetic profiles of 30 persons of CATCH...

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