J Korean Pediatr Soc.
2003 Mar;46(3):291-294.
A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Ulsan University Hospital, Ulsan, Korea. ljh3643@cataegu.ac.kr
- 2Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
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.
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