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Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.

ABSTRACT: 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.

SUBMITTER: Verhagen JM

PROVIDER: S-EPMC4521057 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.

Verhagen Judith M A JM de Leeuw Nicole N Papatsonis Dimitri N M DN Grijseels Els W M EW de Krijger Ronald R RR Wessels Marja W MW

Molecular syndromology 20150617 2

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 ...[more]

PMID: 26279651

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Clinical phenotype of the recurrent 1q21.1 copy-number variant.

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

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