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Fig. 16 | Molecular Cytogenetics

Fig. 16

From: Clinical significance and mechanisms associated with segmental UPD

Fig. 16

Postulated mechanism of segUPD associated with triplications. After passage of a meiotic derived inverted duplication with a contiguous terminal deletion to the zygote, there is somatic rescue by the normal homologue, initiating from the most distal sequence of the inverted duplication. This results in adding a third copy to the duplication and exclusive AABB heterozygote alleles in the CMA (rather than three or four tracts), while correcting the deletion imbalance with terminal segUPD

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