Figure 3.

Figure 3.

Flowchart for molecular diagnosis of Beckwith-Wiedemann syndrome

Recommended first-line testing (highlighted in orange) analyzes methylation at H19/IGF2:IG DMR (IC1) and KCNQ1OT1:TSS DMR (IC2) and copy number variation (CNV). These tests can yield positive molecular diagnoses of chromosome 11 abnormalities, paternal uniparental disomy of chromosome 11 (pUPD), IC1 gain of methylation (IC1 GOM), and IC2 loss of methylation (IC2 LOM) (highlighted in dark green). Further testing (highlighted in blue) can determine chromosomal abnormalities more precisely. If DNA methylation testing is normal, CDKN1C sequencing and/or additional tests for rare chromosomal translocations are recommended. Normal test results can also be due to tissue mosaicism (in which the genetic alteration may not be found due to absence of the molecular change in the tissue sampled), and additional tissue samples can be tested.

Adapted from Wang et al [2020]

From: Beckwith-Wiedemann Syndrome

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