- Original Article
- 22q11 Microdeletion and Clinico-Genetic Correlation in CATCH 22 Syndrome
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Hong Ryang Kil, Young Ha Lee, Yong Hun Chung, Yong Hun Chung
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Clin Exp Pediatr. 2000;43(12):1536-1544. Published online December 15, 2000
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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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