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

doi:10.1002/(SICI)1097-0223(199805)18:5<504::AID-PD290>3.0.CO;2-S

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 journal › Article › peer-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 language	English
Pages (from-to)	504-506
Number of pages	3
Journal	Prenatal Diagnosis
Volume	18
Issue number	5
DOIs	https://doi.org/10.1002/(SICI)1097-0223(199805)18:5<504::AID-PD290>3.0.CO;2-S
Publication status	Published - May 1998

Keywords

Chromosome 4
Ellis-van Creveld
Linkage
Prenatal diagnosis

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

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10.1002/(SICI)1097-0223(199805)18:5<504::AID-PD290>3.0.CO;2-S

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title = "First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers",

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.",

keywords = "Chromosome 4, Ellis-van Creveld, Linkage, Prenatal diagnosis",

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year = "1998",

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AU - Torrente, I.

AU - Mangino, M.

AU - De Luca, A.

AU - Mingarelli, R.

AU - Gennarelli, M.

AU - Giannotti, A.

AU - Novelll, G.

AU - Dallapiccola, B.

PY - 1998/5

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AB - 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.

KW - Chromosome 4

KW - Ellis-van Creveld

KW - Linkage

KW - Prenatal diagnosis

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

Abstract

Keywords

ASJC Scopus subject areas

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