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First‐trimester prenatal diagnosis of Ellis–van Creveld syndrome using linked microsatellite markers
Author(s) -
Torrente I.,
Mangino M.,
de Luca A.,
Mingarelli R.,
Gennarelli M.,
Giannotti A.,
Novelli G.,
Dallapiccola B.
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199805)18:5<504::aid-pd290>3.0.co;2-s
Subject(s) - prenatal diagnosis , microsatellite , locus (genetics) , medicine , obstetrics , fetus , typing , gestation , pregnancy , genetics , biology , allele , gene
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. © 1998 John Wiley & Sons, Ltd.