Figure 2.

Figure 2.

Causes of Beckwith-Wiedemann syndrome by genetic mechanism

* These molecular subgroups, defined by DNA methylation abnormalities, may also be the result of an underlying genomic alteration. Such genomic aberrations are most common for hypermethylation of IC1 and least common for hypomethylation at IC2. Genomic aberrations, limited to the BWS critical region on chromosome 11p15.5, can be detected by MS-MLPA or various sequencing technologies. Some deletions/duplications may be detected by CMA.

BWS = Beckwith-Wiedemann syndrome; CMA = chromosomal microarray; IC1 = imprinting center 1; IC2 = imprinting center 2; MS-MLPA = methylation-specific multiplex ligation-dependent probe amplification

From: Beckwith-Wiedemann Syndrome

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