CATCH 22 증후군의 22q11 미세결실 및 임상-유전적 상관성에 관한 연구 = 22q11 Microdeletion and Clinico-Genetic Gorrelation in CATCH 22 Syndrome

국문 초록 (Abstract)

목 적 : CATCH 22 환자와 그 가족들을 대상으로 이형증성 표현형의 분석을 통하여 인식 가능한 증후군의 기준을 제시하고, 높은 다형성을 보이는 STRP 표지자를 이용한 이종접합성의 소실을 가족단위로 검색함으로써 한국인 고유의 새로운 다형성 유전적 표지자 개발의 기초 자료로 활용함은 물론 임상-유전학적 상관관계의 확인을 통해 유전상담에 도움을 주고자 하였다.방 법 : 선천성 심질환과 구개열을 주소로 충남대학교병원에 내원한 환자 중 CATCH 22 환자와 그 가족들을 대상으로 임상 표현형 분석과 STRP 표지자를 이용한 이종접합성의 소실을 가족단위로 검색하였다.

다국어 초록 (Multilingual 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.