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

Ann Genet. 2001 Oct-Dec;44(4):179-82. doi: 10.1016/s0003-3995(01)01090-5.

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.

Publication types

  • Case Reports

MeSH terms

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