Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome.

Abstract

We report the second trimester prenatal echographic diagnosis of an epignathus teratoma in a female fetus with ring X chromosome mosaicism. The ring X chromosome mosaicism was present in the amniotic cell culture and in the teratoma and the ring X was inactive (X-inactive specific transcript (XIST) locus expressed). Hypoplastic left heart with valvular aortic stenosis and non-immune hydrops were additional findings, and are well-documented in Turner syndrome. The occurrence of epignathus teratoma in Turner syndrome has not been documented sofar.

• Authors: I Witters, P Moerman, D Louwagie, F A Van Assche, B R Migeon, J P Fryns
• Journal: Annales de genetique (Ann Genet) 2001 Oct-Dec Vol. 44 Issue 4 Pg. 179-82 ISSN: 0003-3995 [Print] Netherlands
• PMID: 11755101 (Publication Type: Case Reports, Journal Article)

Topics

• Amniocentesis
• Female
• Fetal Diseases (diagnosis, genetics)
• Humans
• Mosaicism (genetics)
• Nasopharyngeal Neoplasms (diagnosis, genetics)
• Pregnancy
• Pregnancy Trimester, Second
• Ring Chromosomes
• Sex Chromosome Aberrations
• Teratoma (diagnosis, genetics)
• Turner Syndrome (complications)
• Ultrasonography, Prenatal
• X Chromosome