title: 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.affiliation: Department of Obstetrics and Gynaecology, University Hospital Gasthuisberg of Leuven, Leuven, Belgium. Ingrid.Witters@med.kuleuven.ac.be
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: D
authors.initials: D
authors.lastname: Louwagie
authors.forename: F A
authors.initials: FA
authors.lastname: Van Assche
authors.forename: B R
authors.initials: BR
authors.lastname: Migeon
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000649:Amniocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009030:Mosaicism / Q000235:genetics; D009303:Nasopharyngeal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations; D013724:Teratoma / Q000175:diagnosis* / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications*; D016216:Ultrasonography, Prenatal; D014960:X Chromosome