Isodicentric chromosome 15 syndrome
Other Names for this Disease
- Duplication/inversion 15q11
- Inv dup(15)
- Non-distal tetrasomy 15q
- Non-telomeric tetrasomy 15q
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chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.Isodicentric chromosome 15 syndrome is a
Last updated: 1/21/2016
- Idic(15). Unique. 2014; http://www.rarechromo.org/information/Chromosome%2015/Idic%2815%29%20FTNW.pdf.
- Rim JH, Chung HJ, Shin S, Park SJ, Choi JR. Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots. Ann Lab Med. July 2015; 35(4):474-476.
- Isodicentric chromosome 15 syndrome. Genetics Home Reference. September 2012; http://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome.
- Genetics Home Reference (GHR) contains information on Isodicentric chromosome 15 syndrome. 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 Isodicentric chromosome 15 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.
- 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 Isodicentric chromosome 15 syndrome. Click on the link to view a sample search on this topic.