Article
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.
Prenatal diagnosis - 1 Jul 2005
Milunsky Aubrey, Shim Sung Han, Ito Masamichi, Jaekle Ronald K, Bassett Lori L, Brumund Michael R, Milunsky Jeff M
Abstract excerpt
BACKGROUND: The presumptive prenatal diagnosis of tuberous sclerosis (TSC) previously depended upon fetal imaging. Cloning of the two TSC genes (TSC1 and TSC2) now enables precise molecular diagnosis by gene sequencing. We used this approach for the prenatal diagnosis of a fetus showing multiple intracardiac tumors. METHODS: DNA extracted from cultivated amniotic fluid cells underwent sequencing of all coding...
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