PURPOSE: Several studies attempted to clarify the genotype-phenotype correlations in @entity1 with inverted duplication of chromosome 15 [ @entity30946 dup(15)], which is usually characterized by severe @entity1032 and @entity302 in individuals with large duplications including the @entity6038 /Angelman region. We report two @entity1 with @entity30946 dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset @entity302 . This report may help to define the milder spectrum of the syndrome. METHODS: A 25-year-old @entity1 with mild @entity1032 had a 6-year history of @entity2048 , with occasional head drop. Interictal EEG revealed diffuse spike-wave complexes. @entity302 was well controlled by a combination of @entity2812 (LTG) and @entity1092 ( @entity2052 ). The other @entity1 , a 27-year-old @entity1 with mild @entity1032 , had a 5-year history of rare generalized tonic-clonic @entity410 during sleep, and frequent episodes of @entity16715 , which appeared to be @entity2048 on video-EEG recordings. A combination of @entity2052 and LTG led to a remarkable improvement, although no complete control. RESULTS: Molecular analysis revealed a large @entity30946 dup15 in both @entity1 . CONCLUSIONS: The discrepancy between the mild phenotype and the severe @entity2008 detected in these two @entity1 further supports the notion that the site of breakpoint might be contributory to the @entity30946 dup(15) phenotype. @entity30946 dup(15) should be considered in atypical cases of @entity6191 of adult onset without clear-cut etiology.

Mild @entity6191 and developmental disorder associated with large XXXX dup(15).

@entity1 :: ('9606', 'Species') :: ['girl', 'patients', 'patient', 'man'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizure'] @entity1092 :: ('MESH:D014635', 'Chemical') :: ['valproate'] @entity30946 :: ('27130', 'Gene') :: ['inv', 'Inv'] @entity16715 :: ('MESH:C567934', 'Disease') :: ['unresponsiveness'] @entity2052 :: ('CHEBI:39867', 'Chemical') :: ['VPA'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epilepsy', 'Epilepsy'] @entity2048 :: ('MESH:D004832', 'Disease') :: ['absence seizures', 'atypical absence seizures'] @entity6191 :: ('MESH:D004829', 'Disease') :: ['generalized epilepsy'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['chromosomal abnormality'] @entity6038 :: ('MESH:D011218', 'Disease') :: ['Prader-Willi'] @entity2812 :: ('MESH:C047781', 'Chemical') :: ['lamotrigine']
@entity30946 :: (27130,Gene) :: ['inv']
