Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지

Intrauterine growth restriction (IUGR) associated with confined placental mosaicism of ring chromsome 15

  • Ryu, Hyun-Mee (Department of Obstetrics and Gynecology, Samsung Cheil Hospital & Women's Health Care Center, College of Medicine, SungkyunKwan University) ;
  • Yang, Jae-Hyug (Department of Obstetrics and Gynecology, Samsung Cheil Hospital & Women's Health Care Center, College of Medicine, SungkyunKwan University) ;
  • Hong, Song-Ran (Department of Pathology, Samsung Cheil Hospital & Women's Health Care Center, College of Medicine, SungkyunKwan University) ;
  • Park, So-Yeon (Genetic Research Laboratory, Samsung Cheil Hospital & Women's Health Care Center, College of Medicine, SungkyunKwan University) ;
  • Choi, Soo-Kyung (Genetic Research Laboratory, Samsung Cheil Hospital & Women's Health Care Center, College of Medicine, SungkyunKwan University) ;
  • Yang, Sung-Won (Department of Pediatrics, Samsung Cheil Hospital & Women's Health Care Center, College of Medicine, SungkyunKwan University) ;
  • Han, Ho-Won (Department of Obstetrics and Gynecology, Samsung Cheil Hospital & Women's Health Care Center, College of Medicine, SungkyunKwan University)
  • Published : 1998.03.01
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Abstract

The present report describes a case that showed a normal fetal karyotype in an antenatal genetic study but an abnormal placental karyotype of 46,XX,r (15) on postnatal examination. The pregnancy was complicated by fetal nuchal translucency in the first trimester and intrauterine growth restriction in the second and third trimesters. A 1780 gm female baby was born after 40 weeks of gestation, but died of respiratory distress and sepsis on the 10th day of life. Our case was unique in that the placental chromosomal aberration was a structural abnormality instead of a numerical aberration that is seen in most reported cases of confined placental mosaicism.

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