| 22q11 Microdeletion and Clinico-Genetic Correlation in CATCH 22 Syndrome |
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Hong Ryang Kil1, Young Ha Lee2, Yong Hun Chung1, Yong Hun Chung1 |
1Department of Pediatrics, College of Medicine, Chungnam National University, Taejeon, Korea
2Department of Parasitology, College of Medicine, Chungnam National University, Taejeon, Korea |
| CATCH 22 증후군의 22q11 미세결실 및 임상-유전적 상관성에 관한 연구 |
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길홍량1, 이영하2, 정용헌1, 정용헌1 |
1충남대학교 의과대학 소아과학교실
2충남대학교 의과대학 기생충학교실 |
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| 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. |
| Key Words:
CATCH 22, Microdeletion, Conotrucal anomalies |
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