22q11 Microdeletion and Clinico-Genetic Correlation in CATCH 22 Syndrome.
- Author:
Hong Ryang KIL
1
;
Young Ha LEE
;
Yong Hun CHUNG
Author Information
1. Department of Pediatrics , College of Medicine, Chungnam National University, Taejeon, Korea.
- Publication Type:Original Article
- Keywords:
CATCH 22;
Microdeletion;
Conotrucal anomalies
- MeSH:
Cleft Palate;
Diagnosis;
DiGeorge Syndrome;
Heart Defects, Congenital;
Humans;
Loss of Heterozygosity;
Phenotype;
Population Characteristics
- From:Journal of the Korean Pediatric Society
2000;43(12):1536-1543
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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 22 syndrome or their family referred with a diagnosis of either congenital heart disease or cleft palate was undertaken. The deletions of 22q11 were analyzed using the fluorescences in situ hybridization(N25, Oncor) and short tandem-repeat polymorphic makers(STRP, D22S941). RESULTS: The dysmorphic features of CATCH 22 showed considerable overlap and intrafamilial difference was common. The familial cases of CATCH 22 were transmitted maternally as autosomal dominant. The target gene study using the STRP maker(D22S941) in these series showed good clinico-genetic correlation but some heterogeneity. CONCLUSION: Although 22q11 deletion was large in size and high variable in polymorphic markers, extensive evaluation clinically as well as genetically will be necessary for subgrouping of CATCH 22 syndrome due to good clinicogenetic correlation. Furthermore, we also suggest the development of new polymorphic markers to research the unknown characteristics of polymorphic markers in Korean patients with CATCH 22 syndrome.
