Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
Open Access
- 1 April 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (2) , 100-102
- https://doi.org/10.1136/jmg.14.2.100
Abstract
Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome.This publication has 7 references indexed in Scilit:
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