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A case of 13-ring chromosome syndrome.

Journal of the Korean Pediatric Society 1991;34(12):1736-1739.
Published online December 31, 1991.
A case of 13-ring chromosome syndrome.
Jong Soo Lee, Yong Tae Jung, Byung Hak Lim, Im Ju Kang
Department of Pediatrics, Fatima Hospital, Taegu, Korea
모체에서 유전된 13 환 염색체 증후군 1례
이종수, 정용태, 임병학, 강임주
대구파티마병원소아과
Received: 10 May 1991   • Accepted: 25 July 1991
Abstract
We have experienced a case of 13-ring chromosome syndrome in 9 month old girl who had microcephaly, trigonocephaly, hypertelorism, microophthalmia, broad prominent nasal bridge, high arched palate & speech defect. On X-ray study, brain computerized tomograpy showed Dandy-Walker variant. Chromosome study revealed 13-ring chromosome. Her mother had mild mental retardation, short stature, microcephaly, trigonocephaly, hypertelorism and micrognathia. A brief review of the literatures was also presented.
Key Words: 13-ring chromosome syndrome


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