Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome

Peterson, Jess F.; Bick, David; Geddes, Gabrielle C.; McCarrier, Julie; Grignon, John W.; Chirempes, Brett; Broeckel, Ulrich; Abidi, Fatima; Rogers, R. Curtis; Boccuto, Luigi; DuPont, Barbara R.; vanTuinen, Peter

doi:10.1002/ajmg.a.37939

Cited by 2 publications

(2 citation statements)

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“…A total of 139 patients were included for analysis. To our knowledge, only 32 of these patients have previously been reported (Kalish et al, ; MacFarland et al, , ; Peterson et al, ; Tong et al, ). Characteristics about diagnosis including the age at diagnosis and indications for diagnosis were evaluated for differences between the three groups (Caucasian, Mixed, non‐Caucasian) within the current cohort.…”

Section: Resultsmentioning

confidence: 94%

Beckwith–Wiedemann syndrome in diverse populations

Duffy

Sajorda

et al. 2019

American J of Med Genetics Pt A

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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. K E Y W O R D SBeckwith-Wiedemann syndrome, diverse populations, imprinting, methylation, overgrowth, race

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