title: Smith-Magenis syndrome:  clinical evaluation in seven Brazilian patients.
abstract: Smith-Magenis  syndrome (SMS) is a complex congenital anomaly characterized by craniofacial  anomalies, neurological and behavioral disorders. SMS is caused by a deletion  in region 17p11.2, which includes the RAI1 gene (90% of cases), or by  point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is  through cytogenetic analysis by GTG banding and molecular cytogenetic analysis  by FISH. We carried out an active search for patients in Associations of  Parents and Friends of Exceptional Children (APAE) of São Paulo and genetic  centers in Brazil. Forty-eight patients were screened for mental retardation,  craniofacial abnormalities and stereotyped behavior with a diagnosis of SMS. In  seven of them, chromosome banding at high resolution demonstrated chromosome  17p11.2 deletions, confirmed by FISH. We also made a meta-analysis of 165 cases  reported between 1982 and 2010 to compare with the clinical data of our sample.  We demonstrated differences between the frequencies of clinical signs among the  cases reported and seven Brazilian cases of this study, such as dental anomalies,  strabismus, ear infections, deep hoarse voice, hearing loss, and cardiac  defects. Although the gold standard for diagnosis of SMS is FISH, we found that  the GTG banding technique developed to evaluate chromosome 17 can be used for  the SMS diagnosis in areas where the FISH technique is not available.
authors: Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista Julio de Mesquita Filho, Botucatu, SP, Brasil.
authors: B F
authors: BF
authors: Gamba
authors: G H
authors: GH
authors: Vieira
authors: D H
authors: DH
authors: Souza
authors: F F
authors: FF
authors: Monteiro
authors: J J
authors: JJ
authors: Lorenzini
authors: D R
authors: DR
authors: Carvalho
authors: D
authors: D
authors: Morreti-Ferreira
mesh_terms: D000293:Adolescent; D001938:Brazil; D002648:Child; D002871:Chromosome Banding / Q000379:methods*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D058496:Smith-Magenis Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C431552:RAI1 protein, human; D015534:Trans-Activators; D014157:Transcription Factors