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Journal of the Korean Society of Neonatology 2006;13(1):149-153.
Published online May 1, 2006.
A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss.
Jin Hee Lee, Jung Hyun Lee, Chung Sik Chun
Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea. ljhped@catholic.ac.kr
공장 폐쇄와 난청을 동반한 13 고리염색체 증후군 1례
, ,
A ring chromosome 13 was found in newborn female with multiple congenital anomalies suggestive of 13q-syndrome. She presented with intrauterine growth retardation, agenesis of thumbs, craniofacial anomalies, congenital heart diseases, CNS, gastrointestinal anomalies which are imperforate anus and jejunal atresia and sensorineural hearing loss. To our knowledge, there have been several reports on 13q-syndrome with congenital megacolon or imperforate anus at home and abroad. However, the case presenting with jejunal atresia and hearing loss has not been described previously in the country. We report this case with a brief review of the correlation between clinical features and the observed chromosome abberation.
Key Words: Ring chromosome; Jejunal atresia


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