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Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture

✍ Scribed by McKinley, Mark J. ;Kearney, Lyndal U. ;Nicolaides, Kypros H. ;Gosden, Christine M. ;Webb, Tessa P. ;Fryns, Jean P.


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
833 KB
Volume
30
Category
Article
ISSN
0148-7299

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Prenatal diagnosis of fragile X syndrome requires detection of the full FMR1 mutation in chorionic villus or amniotic fluid cell samples. Although analysis of genomic DNA restriction fragment pattern is a highly reliable technique for identification of the full FMR1 mutation, standard Southern blot