title: Partial trisomy 15q: report of a patient and literature review.
abstract: We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.
authors.affiliation: Division of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
authors.forename: K
authors.initials: K
authors.lastname: Chandler
authors.forename: C T
authors.initials: CT
authors.lastname: Schrander-Stumpel
authors.forename: J
authors.initials: J
authors.lastname: Engelen
authors.forename: P
authors.initials: P
authors.lastname: Theunissen
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D012600:Scoliosis / Q000235:genetics; D014314:Trisomy