Cerebral white matter abnormalities associated with chromosome 18q duplication
Chromosome 18q duplications are associated with a range of phenotypes often similar to complete trisomy 18, variably including poor growth, feeding difficulties, congenital malformations and dysmorphic facial features. Although 18q duplication patients may have seizures and developmental impairment, brain MRI typically shows only variable degrees of cerebral atrophy.
Source: Brain and Development - Category: Neurology Authors: Jiayin Huang, Christine Saint-Martin, Guergana Tchakarska, Jos ée Lavoie, Kenneth A. Myers Tags: Case Report Source Type: research