title: Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation.
abstract: We report on a 3-year-old-girl with mosaic partial trisomy 17 due to an additional ring chromosome 17 in 13% of cells analysed. This was identified by fluorescence in situ hybridisation (FISH) using a whole chromosome 17 specific paint as well as probes specific for the Smith-Magenis and Miller-Dieker regions of chromosome 17p. This girl showed mild developmental delay with subtle facial and other minor abnormalities including single palmar creases, generalised joint laxity, and a scoliosis.
authors.affiliation: Centre for Medical Genetics, City Hospital, Nottingham, United Kingdom.
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: N M
authors.initials: NM
authors.lastname: Smith
authors.forename: K E
authors.initials: KE
authors.lastname: Martin
authors.forename: I D
authors.initials: ID
authors.lastname: Young
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D002648:Child; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D014314:Trisomy