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

Judith M.A. Verhagen, Nicole De Leeuw, Dimitri N.M. Papatsonis, Els W.M. Grijseels, Ronald R. De Krijger, Marja W. Wessels

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)71-76
Number of pages6
JournalMolecular Syndromology
Volume6
Issue number2
DOIs
Publication statusPublished - 25 Jul 2015
Externally publishedYes

Keywords

  • 1q21.1 microduplication
  • Congenital heart defects
  • Copy number variation
  • GJA5

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