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Beckwith Weidemann syndrome: A behavioral phenotype–genotype study


  • Please cite this article as follows: Kent L, Bowdin S, Kirby GA, Cooper WN, Maher ER. 2008. Beckwith Weidemann Syndrome: A Behavioural Phenotype–Genotype Study. Am J Med Genet Part B 147B:1295–1297.


Neurobehavioral defects have been reported in human imprinting disorders such as Prader–Willi syndrome and Angelman syndrome and imprinted genes are often implicated in neurodevelopment processes. Beckwith–Wiedemann syndrome (BWS) is a classical human imprinting disorder characterized by prenatal and postnatal overgrowth and variable developmental anomalies. As neurodevelopmental aspects of BWS have not previously been studied in detail, we undertook a questionnaire based neurobehavioral survey of 87 children with BWS. A greater than expected proportion of children demonstrated abnormal scores on measures of emotional and behavioral difficulties. In addition, 6.8% of children had been diagnosed with an autistic spectrum disorder (ASD). 4/6 BWS children with ASD had normal chromosomes and ASD occurred in children with UPD and imprinting center 2 defects. These findings suggest a potential role for the 11p15.5 imprinted gene cluster in ASD and indicate a need for further investigations of neurobehavioral phenotypes in BWS. © 2008 Wiley-Liss, Inc.