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Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management
Author(s) -
Duffy Kelly A.,
Cielo Christopher M.,
Cohen Jennifer L.,
GonzalezGandolfi Christina X.,
Griff Jessica R.,
Hathaway Evan R.,
Kupa Jonida,
Taylor Jesse A.,
Wang Kathleen H.,
Ganguly Arupa,
Deardorff Matthew A.,
Kalish Jennifer M.
Publication year - 2019
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31740
Subject(s) - beckwith–wiedemann syndrome , cohort , medicine , epigenetics , pediatrics , pathology , genetics , biology , dna methylation , gene , gene expression
Beckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical features, leading to the newly defined Beckwith‐Wiedemann spectrum (BWSp). The BWSp can be further divided into three subsets of patients: those presenting with classic features, those presenting with isolated lateralized overgrowth (ILO) and those not fitting into the previous two categories, termed atypical BWSp. Previous reports of patients with BWS have focused on those with the more recognizable, classic features, and limited information is available on those who fit into the atypical and ILO categories. Here, we present the first cohort of patients recruited across the entire BWSp, describe clinical features and molecular diagnostic characteristics, and provide insight into practical diagnosis and management recommendations that we have gained from this cohort.