Clinical and Experimental Pediatrics
- Volume 46 Issue 3
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- Pages.291-294
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- 2003
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- 2713-4148(eISSN)
A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
다발성 선천성 기형을 가진 21번 환(Ring) 염색체 1례
- Lee, Jun-Hwa (Department of Pediatrics, College of Medicine, Ulsan University Hospital) ;
- Seo, Eul-Ju (Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Cente)
- Received : 2002.08.28
- Accepted : 2002.11.01
- Published : 2003.03.15
Abstract
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.
21번 환 염색체는 심한 기형에서부터 정상에 이르기까지 다양한 표현형을 보인다. 저자들은 발달 지연과 다발성 선천성 기형을 가진 환자에서 말초혈액 염색체 검사상 21번 염색체 장완의 결실이 동반된 21번 환 염색체를 경험하였기에 이에 문헌 고찰과 함께 보고하는 바이다.