Chromosome 4q duplication
Other Names for this Disease
- 4q duplication
- 4q trisomy
- Duplication 4q
- Partial trisomy 4q
- Trisomy 4q
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chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Although some cases occur sporadically, most are inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.Chromosome 4q duplication is a
Last updated: 6/15/2015
- Duplications of 4q. Unique. 2008; http://www.rarechromo.org/information/Chromosome%20%204/4q%20duplications%20FTNW.pdf.
- Genetics Home Reference (GHR) contains information on Chromosome 4q duplication. This website is maintained by the National Library of Medicine.
- 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 4q duplication.
- 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 4q duplication. Click on the link to view a sample search on this topic.