P-44 A case of Beckwith-Wiedemann syndrome exhibiting body asymmetry resulted from asymmetric mosaic of paternal disomy

摘要

Beckwith-Wiedemann syndrome (BWS) is a congenital singularity syndrome where the main symptoms are enlargement of the tongue, abdominal wall loss, overgrowth, and in the oral region, operation for tongue reduction are often necessary, because of jaw abnormality such as open bite or respiratory obstruction. We report a case of BWS resulting from paternal UPD of 11p15.5 with hemia-crosomia and enlargement of the tongue. A 5-year-old girl. At the age of 1 year, a glossectomy was performed under general anesthesia because of enlargement of the right side of tongue. With respect to pUPD of chromosome 1 1p15.5 in the tongue, microsatellite marker analysis of resected tongue tissue revealed a higher mosaic rate in the right side (average 48.3%) than in the left (average 16.9%). Methylation analysis revealed hypomethylation of KvDMR1 in the right side (28.1%) in contrast to the left side (39.4%). In this case, the difference of mosaic rate of pUPD in the 11p15.5 region was suggested to influence the expression level of IGF2. This result may be helpful for clinicians, especially for surgeons, when planning plastic surgery for hemihyperplasia.