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

I. Torrente, M. Mangino, A. De Luca, R. Mingarelli, M. Gennarelli, A. Giannotti, G. Novelll, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)504-506
Number of pages3
JournalPrenatal Diagnosis
Volume18
Issue number5
DOIs
Publication statusPublished - May 1998

Keywords

  • Chromosome 4
  • Ellis-van Creveld
  • Linkage
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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