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

Ingrid Witters, Philippe Moerman, Dirk Louwagie, Frans André Van Assche, Barbara R Migeon, Jean Pierre Fryns

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)179-182
Number of pages4
JournalAnnales de Genetique
Issue number4
StatePublished - 2001



  • Epignathus
  • Ring X chromosome mosaicism
  • Teratoma
  • Turner syndrome
  • X-inactivation

ASJC Scopus subject areas

  • Genetics

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