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Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management
- Source :
- Am J Med Genet C Semin Med Genet
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- 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.
- Subjects :
- Male
0301 basic medicine
Beckwith wiedemann
congenital, hereditary, and neonatal diseases and abnormalities
Beckwith-Wiedemann Syndrome
Genotype
business.industry
Cancer predisposition
Infant
DNA Methylation
030105 genetics & heredity
Bioinformatics
Article
03 medical and health sciences
Phenotype
030104 developmental biology
Chromosome (genetic algorithm)
Cohort
Tissue mosaicism
Genetics
Humans
Medicine
Female
business
Genetics (clinical)
Subjects
Details
- ISSN :
- 15524876 and 15524868
- Volume :
- 181
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Accession number :
- edsair.doi.dedup.....8928b14043f56244f329a6cbff7e069b