Our understanding of Beckwith-Wiedemann syndrome (BWS) has recently been enhanced by advances in its molecular characterization. These advances have further delineated intricate (epi)genetic regulation of the imprinted gene cluster on chromosome 11p15.5 and the role of these genes in normal growth and development. Studies of the molecular changes associated with the BWS phenotype have been instrumental in elucidating critical molecular elements in this imprinted region. This review will provide updated information on the multiple new regulatory elements that have been recently found to contribute to in cis or in trans control of imprinted gene expression in the chromosome 11p15.5 region and the clinical expression of the BWS phenotype.
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Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, United Kingdom.
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From the Department of Radiology, Mayo Clinic, 200 1st Ave SE, Rochester, MN 55905 (A.B.K.); Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa (M.R.A.); Department of Radiology and Imaging Sciences, Emory University and Children's Healthcare of Atlanta, Atlanta, Ga (G.K., A.A.); Department of Radiology, Cincinnati Children's Hospital, Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio (C.E.M., A.J.T.); Department of Radiology, Keck School of Medicine and Children's Hospital Los Angeles, Los Angeles, Calif (H.N.N.); Department of Radiology, Nationwide Children's Hospital, Columbus, Ohio (M.A.R.); Department of Medical Imaging, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Ill (E.R.); Department of Radiology, UT Southwestern Medical Center, Dallas, Tex (G.R.S.); Department of Radiology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa (J.H.S.); Department of Radiology, Stanford University School of Medicine, Stanford, Calif (A.B.S.); and Department of Radiology, Children's Hospital Colorado, Aurora, Colo (E.R.T.).
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