All issues > Volume 46(3); 2003

Case Report

J Korean Pediatr Soc. 2003;46(3):291-294. Published online March 15, 2003.

A Case of Ring Chromosome 21 with Multiple Congenital Anomalies

Jun-Hwa JH Lee¹, Eul-Ju EJ Seo²

¹Department of Pediatrics, College of Medicine, Ulsan University Hospital, Ulsan, Korea
²Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea

Correspondence Jun-Hwa JH Lee ,Email: ljh3643@cataegu.ac.kr

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.

Keywords :Ring chromosome 21, Developmental delay, Multiple congenital anomalies