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Case Report

A Case of Ring Chromosome 21 with Multiple Congenital Anomalies

Jun-Hwa Lee, Eul-Ju Seo

Clin Exp Pediatr. 2003;46(3):291-294. Published online March 15, 2003

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,...

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