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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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1q21.1 Microduplication expression in adults.

Alessia Dolcetti1, Candice K Silversides, Christian R Marshall

  • 1Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 29, 2012
PubMed
Summary
This summary is machine-generated.

Chromosome 1q21.1 duplications are linked to developmental issues in children. Adult cases show macrocephaly and connective tissue problems, with potential links to schizophrenia.

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Area of Science:

  • Genetics
  • Human Genetics
  • Clinical Genetics

Background:

  • Recurrent duplications at chromosome 1q21.1 are rare genetic variations.
  • These duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in pediatric populations.
  • Understanding the clinical manifestations in adults is crucial for genetic counseling.

Purpose of the Study:

  • To systematically review existing literature on chromosome 1q21.1 duplications.
  • To identify key clinical features associated with 1q21.1 duplications.
  • To characterize the clinical expression of 1q21.1 duplications in adults.

Main Methods:

  • A systematic review of 22 studies encompassing 107 individuals (59 children, 48 adults) with 1q21.1 duplications.
  • Compilation of phenotypic data to identify associated clinical features and adult expression.
  • Inclusion of seven newly identified adult cases from studies on schizophrenia and tetralogy of Fallot.

Main Results:

  • Individuals with 1q21.1 duplications presented with autism spectrum disorder (n=15), congenital heart disease (n=12), and schizophrenia (n=10), among other developmental features (n=33).
  • The 1q21.1 duplication was significantly enriched in cohorts with schizophrenia (P=0.0155) and tetralogy of Fallot (P=0.0040).
  • Limited adult data revealed macrocephaly and potential connective tissue abnormalities (e.g., carpal tunnel syndrome) as common features.

Conclusions:

  • Further research is required to fully define the lifetime clinical spectrum of 1q21.1 duplications.
  • Anticipatory care for individuals with 1q21.1 duplications should consider the potential for later-onset conditions, including schizophrenia.