title: Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
abstract: We report a 40-year-old female with mild mental retardation and behavior problems and her 6-year-old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band-specific probes, resulting in a 46,XX,dir dup(16)(pter --> p11.2::p12.1 --> qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature.
authors.affiliation: Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl
authors.forename: J J M
authors.initials: JJ
authors.lastname: Engelen
authors.forename: C E M
authors.initials: CE
authors.lastname: de Die-Smulders
authors.forename: R
authors.initials: R
authors.lastname: Dirckx
authors.forename: W M A
authors.initials: WM
authors.lastname: Verhoeven
authors.forename: S
authors.initials: S
authors.lastname: Tuinier
authors.forename: L M G
authors.initials: LM
authors.lastname: Curfs
authors.forename: A J H
authors.initials: AJ
authors.lastname: Hamers
mesh_terms: D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D007621:Karyotyping; D014314:Trisomy