title: Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
abstract: We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected by array comparative genomic hybridization. To our knowledge, this is the third case of mosaicism involving deletion of the 17p11.2 region and the lowest level of mosaicism reported in a patient with Smith-Magenis syndrome (SMS).
authors.affiliation: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
authors.forename: Elaine Suk-Ying
authors.initials: ES
authors.lastname: Goh
authors.forename: Brenda
authors.initials: B
authors.lastname: Banwell
authors.forename: Dimitri James
authors.initials: DJ
authors.lastname: Stavropoulos
authors.forename: Mary
authors.initials: M
authors.lastname: Shago
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D058496:Smith-Magenis Syndrome / Q000175:diagnosis / Q000235:genetics*
keywords: Smith-Magenis syndrome; developmental delay; mosaicism; peripheral neuropathy