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A 18 Trigomy syndrome, Probably Combined with DiGeorge Syndrome.

Journal of the Korean Pediatric Society 1980;23(2):143-148.
Published online February 15, 1980.
A 18 Trigomy syndrome, Probably Combined with DiGeorge Syndrome.
Wi In Kang, Heung Jae Lee, Chong Moo Park
Department of pediatrics, college of medicine Han Yang University Seoul, Korea.
DiGeorge 症候群이 同伴된 것으로 思料과는 18 trisomy 症候群
姜渭寅, 李興在, 朴鍾茂
한양대학교 의과대학 소아과학교실
Abstract
A case of 18 trisomy syndrome in a newborn female infant was presented with a brief review of literatures. She was characterized by low brith weight, swallowing difficulty, cleftplate and lip, malformed ears, low hair line, occipital prominence, large atd angle, club feet, adduction deformity of limbs, absence of thymus shadow in a film of chest, and P.D.A. On the chromosomal study, there is 18 trisomy with 18 p-. On the postmortem examination, the thymus and parathyroid gland can not be find on gross and microscoic study, but the immunologic study was not performed. Also, large P.D.A. and hypoplasia of both kidnies were presented.


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