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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Chromosome 1q duplication


Other Names for this Disease
  • 1q duplication
  • 1q trisomy
  • 2p15-p16.1 microdeletion syndrome
  • 2p15p16.1 microdeletion syndrome
  • Del(2)(p15p16.1)
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Overview

Chromosome 1q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 1q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1] Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
Last updated: 5/7/2015

References

  1. Duplications of 1q. NORD. 2005; http://www.rarechromo.org/information/Chromosome%20%201/1q%20duplications%20%20FTNW.pdf.
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Basic Information

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1q duplication. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 1q duplication
  • 1q trisomy
  • 2p15-p16.1 microdeletion syndrome
  • 2p15p16.1 microdeletion syndrome
  • Del(2)(p15p16.1)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.