title: Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
abstract: Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.
authors.affiliation: Department of Molecular Cell Biology and Genetics, Maastricht University, The Netherlands.
authors.forename: J J
authors.initials: JJ
authors.lastname: Engelen
authors.forename: C E
authors.initials: CE
authors.lastname: De Die-Smulders
authors.forename: P T
authors.initials: PT
authors.lastname: Vos
authors.forename: L E
authors.initials: LE
authors.lastname: Meers
authors.forename: J C
authors.initials: JC
authors.lastname: Albrechts
authors.forename: A J
authors.initials: AJ
authors.lastname: Hamers
mesh_terms: D000328:Adult; D002885:Chromosomes, Human, Pair 16; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014314:Trisomy