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.
Original language | English |
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Pages (from-to) | 504-506 |
Number of pages | 3 |
Journal | Prenatal Diagnosis |
Volume | 18 |
Issue number | 5 |
DOIs | |
Publication status | Published - May 1998 |
Keywords
- Chromosome 4
- Ellis-van Creveld
- Linkage
- Prenatal diagnosis
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology