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Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart

Elisa Rahikkala1, Linda M Forsström, Hannaleena Kokkonen

  • 1Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland. elisa.rahikkala@ppshp.fi

European Journal of Medical Genetics
|May 28, 2013
PubMed

Insights

A rare 4 Mb duplication at 22q13.1q13.2 caused distinct developmental issues in siblings, including hypotonia, heart defects, and intellectual disability. This genetic finding highlights a critical region for neurodevelopmental disorders.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Submicroscopic chromosomal duplications can lead to complex genetic disorders.
  • Understanding the phenotypic spectrum of 22q13 duplications is crucial for diagnosis and management.

Observation:

  • Two siblings presented with a shared 4 Mb duplication at 22q13.1q13.2.
  • Clinical features included infantile hypotonia, delayed milestones, congenital heart defects, growth deficiency, and distinctive craniofacial dysmorphism.
  • Both siblings exhibited moderate intellectual disability and a short attention span.

Findings:

  • Whole genome microarray comparative genomic hybridization (array CGH) identified the 4 Mb interstitial duplication at 22q13.1q13.2 in both affected children.
  • Fluorescence in situ hybridization (FISH) confirmed the duplication and revealed a balanced submicroscopic insertion in the father, explaining the unbalanced inheritance.
  • The father was identified as a carrier of a balanced interchromosomal insertion of 22q13 into chromosome 11q23.

Implications:

  • This case refines the critical region at 22q13.1q13.2 associated with specific developmental and physical anomalies.
  • Identifies a potential link between 22q13 duplications and hippocampal malformation, psychiatric symptoms, and characteristic facial features.
  • Emphasizes the importance of advanced genetic testing, like array CGH and FISH, for diagnosing complex genetic conditions and identifying carrier parents.

Keywords:
22q13 duplicationArray-CGHInterchromosomal insertionMalformed hippocampusMental retardation

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