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Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

Publication ,  Journal Article
Duffy, KA; Cielo, CM; Cohen, JL; Gonzalez‐Gandolfi, CX; Griff, JR; Hathaway, ER; Kupa, J; Taylor, JA; Wang, KH; Ganguly, A; Deardorff, MA; Kalish, JM
Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
December 2019

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.

Duke Scholars

Published In

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

DOI

EISSN

1552-4876

ISSN

1552-4868

Publication Date

December 2019

Volume

181

Issue

4

Start / End Page

693 / 708

Publisher

Wiley

Related Subject Headings

  • Genetics & Heredity
  • 1103 Clinical Sciences
  • 0604 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
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Duffy, K. A., Cielo, C. M., Cohen, J. L., Gonzalez‐Gandolfi, C. X., Griff, J. R., Hathaway, E. R., … Kalish, J. M. (2019). Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 181(4), 693–708. https://doi.org/10.1002/ajmg.c.31740
Duffy, Kelly A., Christopher M. Cielo, Jennifer L. Cohen, Christina X. Gonzalez‐Gandolfi, Jessica R. Griff, Evan R. Hathaway, Jonida Kupa, et al. “Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics 181, no. 4 (December 2019): 693–708. https://doi.org/10.1002/ajmg.c.31740.
Duffy KA, Cielo CM, Cohen JL, Gonzalez‐Gandolfi CX, Griff JR, Hathaway ER, et al. Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2019 Dec;181(4):693–708.
Duffy, Kelly A., et al. “Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 181, no. 4, Wiley, Dec. 2019, pp. 693–708. Crossref, doi:10.1002/ajmg.c.31740.
Duffy KA, Cielo CM, Cohen JL, Gonzalez‐Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM. Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Wiley; 2019 Dec;181(4):693–708.
Journal cover image

Published In

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

DOI

EISSN

1552-4876

ISSN

1552-4868

Publication Date

December 2019

Volume

181

Issue

4

Start / End Page

693 / 708

Publisher

Wiley

Related Subject Headings

  • Genetics & Heredity
  • 1103 Clinical Sciences
  • 0604 Genetics