Article
PGD for germline mosaicism.
Reproductive biomedicine online - 1 Oct 2012
Altarescu Gheona, Beeri Rachel, Eldar-Geva Talia, Varshaver Irit, Margalioth Ehud J, Levy-Lahad Ephrat, Renbaum Paul
Abstract excerpt
The aim of this study was to develop and perform a preimplantation genetic diagnosis (PGD) assay discriminating between wild-type and mutant alleles in two families with germline mosaicism. Family 1 had two children affected with severe myoclonic epilepsy (SCNA1A del exons 1-22). Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children. Neither mutation was detected in genomic DNA...
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