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G Deletion Syndrome II

Journal of the Korean Pediatric Society 1995;38(2):240-244.
Published online February 15, 1995.
G Deletion Syndrome II
Bon Su Koo, Sang Uk Park, Yung Tak Lim, Hee Ju Park
Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
G Deletion Syndrome II 1례
구본수, 박상욱, 임영탁, 박희주
부산대학교 의과대학 소아과학교실
Abstract
We experienced a case of G deletion syndrome II in a 8 year and 1 month old boy. He showed mental retardation, microcephaly, high arched palate, low set malformed ears, epicanthal fold, thoracic deformity, tracheomegaly and two lumens of esophagus. Chromosomal study showed the deletion of long arm of chromosome 22, kariotypically he was depicted as 46, XY, 22q-. A brief review of literature was also presented.
Key Words: G deletion syndrome II


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