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Chromosome 1p36 deletion syndrome
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Overview
1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). Other features include a small head that is unusually short and wide; vision and hearing problems; abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia; and distinctive facial features. 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. Most cases are not inherited.[1]
References
- 1p36 deletion syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome. Accessed June 30, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Chromosome 1p36 deletion syndrome. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1p36 deletion syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Chromosome 1p36 deletion syndrome. Click on the link to go to OMIM and review these resources.
- 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 1p36 deletion syndrome.