Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kristin J. Paulyson"'
Autor:
Kerry M. Lewis, David H. Ledbetter, Kristin J. Paulyson, Susan L. Christian, Carolyn M. Salafia, Jeanne M. Meck, David M. Sherer
Publikováno v:
Prenatal Diagnosis. 16:1021-1026
We present the first case of an infant with paternally-derived mosaic trisomy 16. Amniocentesis following an elevated maternal serum alpha-fetoprotein level and early fetal growth restriction at 19 weeks detected a high level of mosaicism with 25/33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::558247f36ecc95c59a25b44918216dad
https://doi.org/10.1002/(sici)1097-0223(199611)16:11<1021::aid-pd963>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199611)16:11<1021::aid-pd963>3.0.co
Autor:
David M. Sherer, Luis F. Gonçalves, José Fuentes, Fabio Ghezzi, Jose Cohen, Kristin J. Paulyson
Publikováno v:
Europe PubMed Central
Scopus-Elsevier
Scopus-Elsevier
We report the prenatal ultrasonographic diagnosis of a fetus with mandibulofacial dysostosis (Treacher Collins syndrome). Sonographic findings included : polyhydramnios, microcephaly, abnormal fetal facial features (slanting forehead, microphthalmos,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23e0af19c994d1b491f31df83a8b477
https://doi.org/10.1055/s-2007-994511
https://doi.org/10.1055/s-2007-994511