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Genetic and Rare Diseases Information Center (GARD)

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3p deletion syndrome


Other Names for this Disease
  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
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Overview


3p deletion syndrome is a rare chromosome disorder characterized by the deletion of part of the short arm of chromosome 3 (3p). Signs and symptoms reported have been variable; some individuals have been described as normal or having mild signs, while most individuals have been more severely affected. Characteristic features of the condition include low birth weight, microcephaly, trigonocephalyhypotonia, intellectual disability, growth delay, ptosis of the eye, and micrognathia. Other features that may be seen include polydactyly, renal anomalies, congenital heart defects, ear anomalies, and gastrointestinal tract anomalies. The loss of several genes on the deleted part of the chromosome is responsible for the features observed in the condition, with the range and nature of features sometimes depending upon the size of the deleted segment.[1] The loss of a "critical region" at 3p25 is thought to be the cause of many of the features that are commonly present in individuals with 3p deletion syndrome. The deletion usually occurs for the first time in the affected individual (as a de novo mutation) but it may also be inherited from a parent with a balanced translocation, or more rarely, from a seemingly unaffected parent with the same deletion.[1]
Last updated: 2/4/2011

References

  1. Jennifer Takagishi, Katherine A. Rauen, Timothy Drumheller, Boris Kousseff, Maxine Sutcliffe. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. American Journal of Medical Genetics. July 15, 2006; 140A(14):1587-1593.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 3p deletion syndrome. This website is maintained by the National Library of Medicine.
  • 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 3p25 deletions.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss 3p deletion syndrome. Click on the link to view a sample search on this topic.