title: A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.
abstract: We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted genes within the given breakpoints and the phenotype of the case will be discussed.
authors.affiliation: Department of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.
authors.forename: Birsen
authors.initials: B
authors.lastname: Karaman
authors.forename: Rasim Ozgür
authors.initials: RO
authors.lastname: Rosti
authors.forename: Kader
authors.initials: K
authors.lastname: Yilmaz
authors.forename: Havva
authors.initials: H
authors.lastname: Oztürk
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Seher
authors.initials: S
authors.lastname: Başaran
mesh_terms: D057215:Body Dysmorphic Disorders / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic