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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 1p36 deletion syndrome


Other Names for this Disease
  • 1p36 deletion syndrome
  • Monosomy 1p36 syndrome
Related Diseases
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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; only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a balanced translocation, in which no genetic material is gained or lost. [1] There is no cure for this disease. Treatment depends on the symptoms, and may include rehabilitation/educational programs, antiepileptic medication, and standard treatment for heart, kidney, eye, hearing or bone problems.[2]
Last updated: 4/18/2016

References

  1. 1p36 deletion syndrome. Genetics Home Reference. January, 2014; http://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome.
  2. Battaglia A. 1p36 Deletion Syndrome. GeneReviews. June 6, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1191/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chromosome 1p36 deletion 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 chromosome 1p36 deletion syndrome.

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.
  • 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 1p36 deletion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 1p36 deletion syndrome
  • Monosomy 1p36 syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.