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Objective
Xq chromosome duplication with complex rearrangements is generally acknowledged to be associated with neurodevelopmental disorders, such as Pelizaeus‐Merzbacher disease (PMD) and MECP2 duplication syndrome. For couples who required a PGT‐M (pre‐implantation genetic testing for monogenic disease) for these disorders, junction‐specific PCR is useful to directly detect pathogenic variants...
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