PT  - JOURNAL ARTICLE
AU  - D Halley
AU  - M J Heukels-Dully
TI  - Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
AID  - 10.1136/jmg.14.2.100
DP  - 1977 Apr 01
TA  - Journal of Medical Genetics
PG  - 100--102
VI  - 14
IP  - 2
4099  - http://jmg.bmj.com/content/14/2/100.short
4100  - http://jmg.bmj.com/content/14/2/100.full
SO  - J Med Genet1977 Apr 01; 14
AB  - 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.