Prenatal characterization of a novel inverted <i>SMAD2</i> duplication by mate pair sequencing in a fetus with dextrocardia.

15 While the SMAD2 duplication has a highly significant genotype‐phenotype association in the proband (and subsequently affected sister), the interpretation of the duplication by CMA alone was uncertain given that CMA does not give positional information for the rearrangement (ie, the duplication could be located in direct or inverted orientation to the normal SMAD2 allele, or it could be located elsewhere in the genome).

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