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Beckwith–Wiedemann syndrome in diverse populations
Author(s) -
Duffy Kelly A.,
Sajorda Brian J.,
Yu Alice C.,
Hathaway Evan R.,
Grand Katheryn L.,
Deardorff Matthew A.,
Kalish Jennifer M.
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61053
Subject(s) - genotype , beckwith–wiedemann syndrome , ethnic group , genotype phenotype distinction , race (biology) , phenotype , medicine , genetics , incidence (geometry) , biology , gene , gene expression , botany , sociology , anthropology , dna methylation , physics , optics
Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype–phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethnic backgrounds, no study to date has evaluated the frequency of findings in different backgrounds. In this study, we evaluated the incidence of clinical features and molecular diagnoses among patients with BWS in Caucasian, Mixed, and non‐Caucasian groups. These results suggest that clinical features and molecular diagnoses differ between race/ethnicity groups and raise the possibility of race and ethnicity effects on genotype–phenotype correlations in BWS.