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Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene
- Source :
- American journal of medical genetics. Part A. (3)
- Publication Year :
- 2005
-
Abstract
- Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies usually associated with an interstitial deletion of chromosome 17p11.2. While high quality G-banding will identify most SMS patients, fluorescent in situ hybridization (FISH) is the recommended test for confirmation of an SMS diagnosis. Recently, haploinsufficiency of the RAI1 gene due to deletion or mutation was determined to be the likely cause of SMS. All diagnostic FISH probes available commercially contain the FLII gene and are approximately 580 kb centromeric to RAI1. We present two patients with SMS who have interstitial deletions at 17p11.2 but are not deleted for currently available commercial FISH probes that include FLII; both patients have deletions that are demonstrated with probes containing the RAI1 gene. We recommend that for diagnostic accuracy, all future FISH tests for SMS be performed with probes containing the RAI1 gene, as some atypical deletions in the region critical to the SMS phenotype will otherwise be missed.
- Subjects :
- Male
Infant
Proteins
Child Behavior Disorders
Syndrome
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Child, Preschool
Intellectual Disability
Trans-Activators
Humans
Abnormalities, Multiple
Chromosome Deletion
Child
In Situ Hybridization, Fluorescence
Chromosomes, Human, Pair 17
Transcription Factors
Subjects
Details
- ISSN :
- 15524825
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.pmid..........8491635d6af3ece2848f9f2cbeda0c08