Journal of the Korean Pediatric Society 2000;43(9):1274-1278.
Published online September 15, 2000.
A Case of Mosaic Tetraploidy
Ji-hwan Choi1, Ju-a Lee1, So-ra Lee1, Yeon-kyun Oh1, Hee-sub Rhee2, Jeong-joong Kim3, See-sung Choi4
1Department of Pediatrics, College of Medicine, Wonkwang University School, Iksan, Korea
2Department of Obstetrics, College of Medicine, Wonkwang University School, Iksan, Korea
3Department of Anatomy, College of Medicine, Wonkwang University School, Iksan, Korea
4Department of Radiology, College of Medicine, Wonkwang University School, Iksan, Korea
Mosaic Tetraploidy 환아 1례
최지환1, 이주아1, 이소라1, 오연균1, 이희섭2, 김정중3, 최시성4
1원광대학교 의과대학 소아과학교실
2원광대학교 의과대학 산부인과학교실
3원광대학교 의과대학 해부학교실
4원광대학교 의과대학 방사선과학교실
Abstract
Tetraploidy of human chromosome(92, XXYY) has been described very rarely. Liveborn infant with tetraploidy was reported in only 17 cases(complete 7 cases, mosaicism 10 cases) in the world, and no cases have been reported in Korea. The diploid-tetraploid mosaicism could arise during the early mitosis of the zygote : In one blastomeric cell, the chromosomes replicate but the cytoplasm does not divide. We report a case of live infant with mosaic tetraploidy detected in lymphocyte(30%) and amniotic cell culture(25%), who presented with multiple congenital anomalies. A brief review of the literature is included.
Key Words: Tetraploidy, Mosaicism


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