Chromosome 3p- syndrome
Other Names for this Disease
- Del(3p) syndrome
- Chromosome 3, monosomy 3p25
- Deletion 3p25
- Chromosome 3pter-p25 Deletion Syndrome
- Telomeric monosomy 3p
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chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.Chromosome 3p- syndrome is a rare
Last updated: 5/10/2015
- Kaur A, Khetarpal S. 3p deletion syndrome. Indian Pediatr. August, 2013; 50(8):795-796. Accessed 7/8/2014.
- 3p25 Deletions. Unique. 2014; http://www.rarechromo.org/information/Chromosome%20%203/3p25%20deletions%20FTNW.pdf.
- Chromosome 3, Monosomy 3p. NORD. 2009; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/993/viewAbstract.
- Genetics Home Reference (GHR) contains information on Chromosome 3p- syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Chromosome 3p- syndrome.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a 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 3p- syndrome. Click on the link to view a sample search on this topic.