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
✦ LIBER ✦
Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis
✍ Scribed by L. Chkioua; S. Ferchichi; S. Khedhiri; Z. Jaidane; H. Chahed; S. Wesleti; R. Froissart; I. Maire; S. Laradi; A. Miled
- Book ID
- 116570108
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- French
- Weight
- 961 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0923-2532
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