title: Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.
abstract: We report on an 18-year-old female with de novo tandem duplication Xq23-->Xq27-28. The breakpoints of the duplication segment have been mapped by FISH using a panel of locus specific YACs. Despite selective inactivation of the aberrant X chromosome, proven by a combination of molecular and cytogenetic studies, the patient exhibits mental retardation, dysmorphic features and short stature. Possible mechanisms explaining this unexpected finding are discussed.
authors.affiliation: Institute of Human Genetics, Otto von Guericke University of Magdeburg, Leipziger Strasse 44, D-39120 Magdeburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Volleth
authors.forename: M
authors.initials: M
authors.lastname: Stumm
authors.forename: K
authors.initials: K
authors.lastname: Mohnike
authors.forename: V M
authors.initials: VM
authors.lastname: Kalscheuer
authors.forename: S
authors.initials: S
authors.lastname: Jakubiczka
authors.forename: P
authors.initials: P
authors.lastname: Wieacker
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D014960:X Chromosome