Other Names for this Disease
- Chromosome 17p11.2 deletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
On this page
Smith-Magenis syndrome is not typically inherited. The condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family. In a very small number of cases, parental mosaicism has been reported. Complex familial chromosomal rearrangements leading to deletion of chromosome 17p11.2 and Smith-Magenis syndrome have also been reported. Again, these are very rare. As a result, chromosome analysis of the parents is suggested for all newly diagnosed individuals. This information can help to identify specific risks to other family members. For instance, if a parent of an individual with Smith-Magenis syndrome has a balanced chromosome rearrangement, at-risk family members (siblings, etc.) can be tested by chromosome analysis and FISH.
Last updated: 2/15/2012
- Smith-Magenis syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=smithmagenissyndrome. Accessed 2/15/2012.
- Smith ACM et al.. Smith-Magenis Syndrome - Genetic Counseling. GeneReviews. January 7, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1310/#sms.Genetic_Counseling. Accessed 2/15/2012.