National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 5p deletion


Other Names:
Deletion 5p; Monosomy 5p; 5p deletion; Deletion 5p; Monosomy 5p; 5p deletion; 5p monosomy; Partial monosomy 5p See More
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Chromosome 5p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 5p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1][2] Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person.

This page is meant to provide general information about 5p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 5. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Last updated: 4/11/2016

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Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 5p deletion. Click on the link to view a sample search on this topic.

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  1. Macayran Nguyen J, Gamble C, Smith JL, Raia M, Johnson A, Czerwinski J. Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother. Prenat Diagn. November 2014; 34(11):1115-1118.
  2. Wang JC Khan A. Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. Clin Dysmorphol. January 2010; 19(1):38-39.