All issues > Volume 43(9); 2000

Case Report

J Korean Pediatr Soc. 2000;43(9):1274-1278. Published online September 15, 2000.

A Case of Mosaic Tetraploidy

Ji-hwan JH Choi¹, Ju-a JA Lee¹, So-ra SR Lee¹, Yeon-kyun YK Oh¹, Hee-sub HS Rhee², Jeong-joong JJ Kim³, See-sung SS 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

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.

Keywords :Tetraploidy, Mosaicism