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Prenatal diagnosis of fragile X syndrome

✍ Scribed by R Willemsen; JC Oosterwijk; FJ Los; H Galjaard; BA Oostra


Book ID
118552463
Publisher
The Lancet
Year
1996
Tongue
English
Weight
194 KB
Volume
348
Category
Article
ISSN
0140-6736

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Prenatal diagnosis of fragile X syndrome
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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

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✍ Grasso, M.; Perroni, L.; Colella, S.; Piombo, G.; Argusti, A.; Lituania, M.; Bus πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 29 KB πŸ‘ 2 views

The results of 30 prenatal diagnoses for fragile X syndrome are reported. Amniotic fluid cells were examined in 1 case, fetal blood in 4, and chorionic villi samples in the others. Of the 5 fetuses analyzed by cytogenetic methods, 1 had showed 4% of fraXq27.3 expression sites and the pregnancy was t