A Case of Mosaic Tetrapaloidy.
- Author:
Ji Hwan CHOI
1
;
Ju A LEE
;
So Ra LEE
;
Yeon Kyun OH
;
Hee Sub RHEE
;
Jeong Joong KIM
;
See Sung CHOI
Author Information
1. Department of Pediatrics, College of Medicine, Wonkwang University School, Iksan, Korea.
- Publication Type:Case Report
- Keywords:
Tetraploidy;
Mosaicism
- MeSH:
Humans;
Infant;
Korea;
Mitosis;
Mosaicism;
Tetraploidy;
Zygote
- From:Journal of the Korean Pediatric Society
2000;43(9):1274-1278
- CountryRepublic of Korea
- Language:Korean
-
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 cytoplasrn 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.