title: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
abstract: Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12 cases with direct duplications, three cases with inverted duplications, and five in whom determination of direction was not possible. In seven cases a rearrangement between non-sister chromatids (N-SCR) was found, whereas in the remaining 13 cases sister chromatids (SCR) were involved. Paternal and maternal origin (7:7) was found almost equally in cases with SCR (3:4) and N-SCR (4:3). In the cases with proven inversion, there was maternal and paternal origin in one case each. Twenty three out of 43 cytogenetically determined breakpoints correlated with common or rare fragile sites. In five cases, including all those with proven inverse orientation, all breakpoints corresponded to common or rare fragile sites. In at least two cases, one with an interstitial duplication (dup(19)(q11q13)) and one with a terminal duplication (dup(8) (p10p23)), concomitant deletions (del(8) (p23p23.3) and del(19)(q13q13)) were found.
authors.affiliation: Institute for Medical Genetics, University of Zürich, Zürich, Switzerland. Kotzot@medgen.unizh.ch
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
authors.forename: M J
authors.initials: MJ
authors.lastname: Martinez
authors.forename: G
authors.initials: G
authors.lastname: Bagci
authors.forename: S
authors.initials: S
authors.lastname: Basaran
authors.forename: A
authors.initials: A
authors.lastname: Baumer
authors.forename: F
authors.initials: F
authors.lastname: Binkert
authors.forename: L
authors.initials: L
authors.lastname: Brecevic
authors.forename: C
authors.initials: C
authors.lastname: Castellan
authors.forename: K
authors.initials: K
authors.lastname: Chrzanowska
authors.forename: F
authors.initials: F
authors.lastname: Dutly
authors.forename: A
authors.initials: A
authors.lastname: Gutkowska
authors.forename: S B
authors.initials: SB
authors.lastname: Karaüzüm
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: G
authors.initials: G
authors.lastname: Luleci
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: M
authors.initials: M
authors.lastname: Riegel
authors.forename: S
authors.initials: S
authors.lastname: Schuffenhauer
authors.forename: H
authors.initials: H
authors.lastname: Seidel
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D020732:Cytogenetic Analysis; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D009030:Mosaicism / Q000235:genetics; D012854:Sister Chromatid Exchange