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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1. . Three different genetic mechanisms cause 6q24-TNDM: paternal uniparental disomy of chromosome 6 (UPD6) (41%); duplication of 6q24 on the paternal allele (29%); and hypomethylation of the maternally inherited PLAGL1 TSS alt-DMR (30%).

Figure 1.

Three different genetic mechanisms cause 6q24-TNDM: paternal uniparental disomy of chromosome 6 (UPD6) (41%); duplication of 6q24 on the paternal allele (29%); and hypomethylation of the maternally inherited PLAGL1 TSS alt-DMR (30%). Hypomethylation of the maternally inherited PLAGL1 TSS alt-DMR may result from an isolated imprinting variant or as part of a more generalized defect termed multilocus imprinting disturbance (MLID). Biallelic ZFP57 pathogenic variants account for almost half of TNDM-MLID; the other causes of MLID are not known.

From: Diabetes Mellitus, 6q24-Related Transient Neonatal

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