Journal of the Korean Pediatric Society 1995;38(11):1583-1587.
Published online November 15, 1995.
A Case of Ring 14 Chromosome Syndrome
Jeong Hwa Choi, Han Sang Cho, Young Tak Lim, Hee Ju Park
Departement of Pediatrics, Pusan University, College of Medicine, Pusan, Korea
14환 염색체 중후군 1례
최정화, 조한상, 임영탁, 박희주
부산대학교 의과대학 소아과학교실
Abstract
A case of ring 14 chromosome syndrome, confirmed by chromosome study, was dis¡ⓒ cribed. She was 15 months old and manifestated facial abnormalities containing micro¡ⓒ cephaly, flat occiput, hyperterrorism and psychomotor retardation, intractable seizure. Chromosomal study showed the ring 14 chromosome, karyotypic ally she was depicted 46, XY, r(14). A brief review of all literature was also presented.
Key Words: Ring 14 chromosome


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