First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.
作者信息
Torrente I, Mangino M, De Luca A, Mingarelli R, Gennarelli M, Giannotti A, Novelli G, Dallapiccola B
机构信息
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università di Roma Tor Vergata, Italy.
出版信息
Prenat Diagn. 1998 May;18(5):504-6.
PMID:9621386
Abstract
We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at 22 weeks of gestation and by clinical evaluation at birth.
摘要
Zotero 插件