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Prenatal diagnosis of fragile X syndrome

✍ Scribed by Hirst, Mark; Knight, Samantha; Davies, Kay; Cross, Gareth; Ocraft, Kevin; Raeburn, Sandy; Heeger, Shauna; Eunpu, Deborah; Jenkins, EdmundC; Lindenbaum, Richard


Book ID
122847981
Publisher
The Lancet
Year
1991
Tongue
English
Weight
582 KB
Volume
338
Category
Article
ISSN
0140-6736

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## Abstract Since 1985, we have provided coordinated DNA‐based and cytogenetic prenatal analysis for couples at risk for offspring afflicted with the fragile X [fra(X)] syndrome. To date, 40 pregnancies have been studied (22 males, 18 females). There were 5 males and 3 females identified to be at h

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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