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Single nucleotide polymorphism (SNP) microarrays (MA) may be valuable in detecting small genomic imbalances and distinguishing balanced from normal embryos for carriers of reciprocal translocations

      In most circumstances, a balanced translocation is considered genomically equivalent to normal with clinical abnormalities limited to chromosomally imbalanced gametes. As such, PGD for translocations have focused on detecting imbalances and not with distinguishing balanced from normal. In fact, small insertions or deletions (indels) may occur at or near the chromosomal breakpoints. Rarely, such alternations can impact phenotype. Even when they do not, many couples would prefer karyotypically normal embryos to avoid passing the abnormality to future generations. This study determines if MA analysis can be used to detect small indels in carriers of balanced translocations and their embryos.
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