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Title: Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome
Authors: Witters, Ingrid ×
Moerman, Philippe
Louwagie, D
Van Assche, Frans Andre
Migeon, B R
Fryns, Jean-Pierre #
Issue Date: Dec-2001
Series Title: Annales de Génétique vol:44 issue:4 pages:179-82
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.
ISSN: 0003-3995
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
Section Woman - Miscellaneous (-)
Clinical Genetics Section (-)
Clinical Genetics
Faculty of Medicine - miscellaneous
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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