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
Prenatal ultrasonic diagnosis of a case of Ellis–van Creveld syndrome with a single atrium
✍ Scribed by H. Horigome; Hiromi Hamada; Satoshi Sohda; Yuji Oyake; Yoshihisa Kurosaki
- Book ID
- 105942733
- Publisher
- Springer-Verlag
- Year
- 1997
- Tongue
- English
- Weight
- 486 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0301-0449
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