Beckwith-Wiedemann Syndrome bullet points.txt

• overgrowth disorder
• pre and postnatal overgrowth
• macroglossia
• anterial abdominal wall defects
• EMBRYONAL neoplasms (tumors)

genes within chromosome 11p15.5

• molecular genetic diagnosis of BWD
• uniparental disomy, which occurs w

• genetic diagnosis of BWD that can be either:
• Loss of IGF2 and H19 hypermeth. & silencing due to defect in 11p15.5
• LOSS of methylation at KvDMR1, LOIs in LIT1 and IGF2

investigate genotype/epigenotype-phenotype correlations in 200 cases w/a confirmed MOLECULAR GENETIC DIAGNOSIS of BWS

• It was shown that some patients with molecular characteristsics of BWS have incomplete phenotypes
• ie hemihypertrophy and IC2 defect patients: some did not present any BWS features
• OVERALL TUMOR RISK: highest with ICD and UPD BWS patients, lowest in MUTCDKN1C and ICD2 patients

if they have BWS ICD1 or UPD molecular diagnoses

if they have BWS ICD2

• BWS represents a SPECTRUM of disorders.
• Helping by IDing subtypes helps to make better prognostic predictions and enhance management and surveillence of BWS children

• PCR was used to identify sequences and determine UPD in individuals (using genotyping software)
• Southern blotting techniques helped to ID methylation of sites (ie H19)