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Genetic and Rare Diseases Information Center (GARD)

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Chromosome 1q21.1 duplication syndrome


Other Names for this Disease
  • 1q21.1 microduplication syndrome
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Overview


Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features.[1][2] This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.
Last updated: 8/15/2013

References

  1. Hamoush A. Chromosome 1q21.1 duplication syndrome. OMIM. June 10, 2009; http://www.ncbi.nlm.nih.gov/omim/612475. Accessed 11/4/2010.
  2. 1q21.1 Microduplications. Unique. June 2011; http://www.rarechromo.org/information/Chromosome%20%201/1q21.1%20microduplications%20FTNW.pdf. Accessed 8/15/2013.
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Basic Information

  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 1q21.1 microduplications.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1q21.1 duplication syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles