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.
Original language | English (US) |
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Pages (from-to) | 179-182 |
Number of pages | 4 |
Journal | Annales de Genetique |
Volume | 44 |
Issue number | 4 |
DOIs | |
State | Published - 2001 |
Keywords
- Epignathus
- Ring X chromosome mosaicism
- Teratoma
- Turner syndrome
- X-inactivation
ASJC Scopus subject areas
- Genetics