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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 a missing (deleted) part of the short arm of chromosome 3 (known as 3p). The signs and symptoms vary. Some affected people appear to have no features or mild features, but most have been more severely affected. Features of the condition may include low birth weight, small head size (microcephaly), trigonocephaly, poor muscle tone (hypotonia), intellectual disability, growth delay, ptosis of the eye, and small jaw (micrognathia). Other features that have been reported include polydactyly, kidney 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 of the condition. The range and severity of features sometimes depends on the size of the missing piece of the chromosome. The loss of a specific region called 3p25 is thought to cause many of the more common features. The deletion usually occurs for the first time in the affected person (called a de novo mutation) but it can be inherited from a parent.[1]
Last updated: 7/8/2014

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

  • 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. 
  • 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.
Other Names for this Disease
  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.