BACKGROUND: @entity1717 ( @entity3190 ) can have monogenic or syndromic causes. Although @entity3190 has long been recognised to be common in @entity1 with @entity11123 ( @entity11123 ), the underlying mechanism is not known. METHODS: We characterised the clinical features of @entity1 with both @entity3190 and @entity11123 /11p overgrowth spectrum, evaluated the contribution of KATP channel mutations to the molecular pathogenesis of their @entity3190 and assessed molecular pathogenesis associated with features of @entity11123 . RESULTS: We identified 28 @entity1 with @entity3190 and @entity11123 /11p overgrowth from 1997 to 2014. Mosaic paternal uniparental isodisomy for chromosome 11p (pUPD11p) was noted in 26/28 cases. Most were refractory to @entity6335 treatment and half required subtotal pancreatectomies. @entity1 displayed a wide range of clinical features from classical @entity11123 to only mild @entity11122 (11p overgrowth spectrum). Four of the cases had a paternally transmitted KATP mutation and had a much more severe @entity3190 course than @entity1 with pUPD11p alone. CONCLUSIONS: We found that @entity1 with pUPD11p-associated @entity3190 have a persistent and severe @entity3190 phenotype compared with transient hypoglycaemia of @entity11123 /11p overgrowth @entity1 caused by other aetiologies. Testing for pUPD11p should be considered in all @entity1 with persistent @entity1717 , especially for those without an identified @entity3190 gene mutation.

XXXX in @entity1 with paternal 11p uniparental isodisomy and @entity11123 .

@entity1 :: ('9606', 'Species') :: ['children', 'Patients', 'patients'] @entity11122 :: ('MESH:C563014', 'Disease') :: ['hemihypertrophy'] @entity6335 :: ('MESH:D003981', 'Chemical') :: ['diazoxide'] @entity11123 :: ('MESH:D001506', 'Disease') :: ['BWS', 'Beckwith-Wiedemann syndrome'] @entity1717 :: ('MESH:D044903', 'Disease') :: ['congenital HI', 'Congenital hyperinsulinism'] @entity3190 :: ('MESH:D006946', 'Disease') :: ['HI']
@entity1717 :: (MESH:D044903,Disease) :: ['Congenital hyperinsulinism']
