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Small Copy Number-Neutral Intrachromosomal Translocation of PAX6 and Aniridia
newsaniridialong-read whole-genome sequencing

Small Copy Number-Neutral Intrachromosomal Translocation of PAX6 and Aniridia

By MedXY|May 21, 2026

Optical genome mapping and long-read sequencing uncovered a tiny balanced rearrangement that separated PAX6 from its control region, explaining classic aniridia after prior testing was negative.

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