Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family
SourceMolecular Syndromology, 6, 2, (2015), pp. 71-76
Article / Letter to editor
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SubjectRadboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A subset of individuals is clinically unaffected. We describe a unique 3-generation family with a large recurrent 1q21.1 microduplication (BP2-BP4). Our observations underline the incomplete penetrance and phenotypic variability of this rearrangement. We also confirm the association with congenital heart malformations, chronic depression, and anxiety. Furthermore, we report a broader range of dysmorphic features. The extreme phenotypic heterogeneity observed in this family suggests that additional factors modify the clinical phenotype.
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