Article
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.
Prenatal diagnosis - 1 Nov 2005
Percesepe Antonio, Ferrari Maurizio, Coviello Domenico, Zanussi Monica, Castagni Marina, Neri Isabella, Travi Maurizio, Forabosco Antonino, Tedeschi Silvana
Abstract excerpt
OBJECTIVES: To report a multi-technical approach to Duchenne muscular dystrophy (DMD) mutation testing through carrier analysis, in the prenatal diagnosis of a male foetus without a known mutation segregating in the family and with inconclusive results of linkage analysis. METHODS: Haplotype analysis with the DMD region markers for assigning the carrier status of the mother and for prenatal diagnosis of foetal...
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