Figure 4 | Journal of Human Genetics

Figure 4

From: Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

Figure 4

Schematic representation of the generation of upd(14)pat in patients or parents with Robertsonian translocation or i(14q). MR, monosomy rescue; TR, trisomy rescue; upd(14)pat, paternal uniparental disomy 14. (a) Hetero-upd(14)pat mediated by paternal Robertsonian translocation and post-zygotic TR. (b) Iso-upd(14)pat mediated by maternal Robertsonian translocation and post-zygotic MR. (c) Iso-upd(14)pat generated by concomitant occurrence of post-zygotic MR and isochromosome formation. (d) Iso-upd(14)pat generated by sequential occurrence of meiotic isochromosome formation and post-zygotic TR. (e) Iso-upd(14)pat generated by sequential occurrence of mitotic isochromosome formation and TR.

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