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Carrier detection and X-inactivation studies in the fragile X syndrome

✍ Scribed by Karen Brøndum Nielsen; N. Tommerup; Hanne Poulsen; Petrea Jacobsen; Bente Beck; Margareta Mikkelsen

Publisher
Springer
Year
1983
Tongue
English
Weight
619 KB
Volume
64
Category
Article
ISSN
0340-6717

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## Abstract Prenatal diagnosis was performed in 81 cases at risk for the fragile X syndrome. There were 12 fra (X)‐positive cases, two of which showed low expression in cultured amniotic fluid cells. FUdR and high thymidine were used for induction of fra(X) (q27.3) expression in all cases. In 21 ca