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First-trimester prenatal diagnosis of Ellis–van Creveld syndrome using linked microsatellite markers

✍ Scribed by I. Torrente; M. Mangino; A. de Luca; R. Mingarelli; M. Gennarelli; A. Giannotti; G. Novelli; B. Dallapiccola

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 39 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199805)18:5<504::aid-pd290>3.0.co;2-s

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✦ Synopsis

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.

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Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because