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Prenatal diagnosis of a fetus with anencephaly and thumb agenesis

✍ Scribed by Chiara Barone; Giovanni Bartoloni; Antonella Cataliotti; Lara Indaco; Elisa Pappalardo; Barbara Barrano; Giuseppe Ettore; Sebastiano Bianca


Book ID
114825191
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
225 KB
Volume
52
Category
Article
ISSN
0914-3505

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We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a second-trimester fetus with mosaic ring chromosome 13 and anencephaly. A 35-year-old, gravida 3, para 2 woman was referred for genetic counselling at 23 weeks' gestation because of an elevated maternal serum alpha