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Genetic and Rare Diseases Information Center (GARD)

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17q23.1q23.2 microdeletion syndrome


Other Names for this Disease
  • 17q23.1-q23.2 microdeletion syndrome
  • Chromosome 17q23.1-q23.2 deletion syndrome
  • Del(17)(q23.1q23.2)
  • Monosomy 17q23.1-q23.2
  • Monosomy 17q23.1q23.2
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Overview


17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.[1][2]
Last updated: 1/3/2013

References

  1. Morichon-Delvallez N. 17q23.1q23.2 microdeletion syndrome. Orphanet. 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261279. Accessed 1/2/2013.
  2. Ballif et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12;86(3):454-61. .
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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 17q23.1q23.2 microdeletion syndrome. Click on the link to view a sample search on this topic.