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  • Title: Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture.
    Author: McKinley MJ, Kearney LU, Nicolaides KH, Gosden CM, Webb TP, Fryns JP.
    Journal: Am J Med Genet; 1988; 30(1-2):355-68. PubMed ID: 3177458.
    Abstract:
    Second trimester ultrasound-guided fetal blood sampling and placental biopsy were performed on 10 pregnancies at risk for fra(X)-linked mental retardation (Martin-Bell syndrome). Three cases were diagnosed as affected after cytogenetic analysis of fetal blood and placental cultures. The fra(X)(q27.3) and common fragile sites were shown to be expressed at a lower level in placenta than in fetal blood. Induction methods included methotrexate, 5-fluoro-2-deoxyuridine, and excess thymidine. Excess thymidine may give the best expression of fra(X)(q27.3). Enhancement of fra(X)(q27.3) expression was not shown with caffeine or 5-methoxybenzamide.
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