Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA

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Beckwith-Wiedemann syndrome (BWS) and Russell-Silver syndrome (RSS) are phenotypically variable overgrowth syndromes. BWS is associated with an increased risk for embryonal tumor development, neonatal hypoglycemia, macroglossia, macrosomia, hemihyperplasia, omphalocele, renal abnormalities, and ear creases or pits. RSS is characterized by pre- and postnatal growth deficiency, proportionate short stature, developmental delay, learning disabilities, limb-length asymmetry, and distinctive facial features. The primary cause of BWS includes loss of maternal methylation at imprinting center 2 (IC2) and paternal uniparental disomy (UPD) of chromosome 11p15. For RSS, it predominantly involves hypomethylation of imprinting center 1 (IC1) and maternal UPD of chromosome 7.