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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART): Table 1

Year: 2003

Type: article

Abstract: Beckwith-Wiedemann syndrome (BWS) is a modelimprinting disorder resulting from mutations or epimu-tations affecting imprinted genes on chromosome 11p15.5.1 The classical clinical features of BWS are macroglos-sia, pre- and/or postnatal overgrowth, and anterior abdominal wall defects (umbilical hernia or exomphalos). Additional more variable features include hemihypertrophy, neonatal hypoglycaemia, facial naevus flammeus, ear pits and creases, renal anomalies, and an increased risk of embryonal tumours.2 Most cases of BWS are sporadic and ∼20 % of these have uniparental disomy (paternal isodisomy) for a variable region of chromosome 11 which always includes the 11p15.5 imprinted gene cluster.3–5 Up to 60 % of sporadic BWS patients have epigenetic changes at differentially methylated regions within 11p15.5 that are associated with alterations in the imprinting or expression of paternally expressed genes, such as IGF2 and KCNQ1OT, or maternally expressed genes, such as

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.40.1.62