Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome.
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.
Witters
I
I
Department of Obstetrics and Gynaecology, University Hospital Gasthuisberg of Leuven, Leuven, Belgium. Ingrid.Witters@med.kuleuven.ac.be
Moerman
P
P
Louwagie
D
D
Van Assche
F A
FA
Migeon
B R
BR
Fryns
J P
JP
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