title: De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies.
abstract: De novo structural chromosomal imbalances represent a major challenge in modern cytogenetic diagnostics. Based solely on conventional cytogenetic techniques it may be impossible to identify the chromosomal origin of additional chromosomal material. In these cases molecular cytogenetic investigations including multicolor-FISH (M-FISH), spectral karyotyping (SKY), multicolor banding (MCB) and cenM-FISH combined with appropriate single-locus FISH probes are highly suitable for the determination of the chromosomal origin and fine characterization of derivative chromosomes. Here we report on four patients with de novo chromosomal imbalances and distinct chromosomal phenotypes, three of them harboring pure partial trisomies: a mildly affected boy with pure partial trisomy 10q22.2-->q22.3 approximately 23.1 due to an interstitial duplication, a girl with pure trisomy 12p11.21-->pter and atypically moderate phenotype as the consequence of an X;autosome translocation, and a girl with multiple congenital abnormalities and severe developmental delay and a 46,XX,15p+ karyotype hiding a trisomy 17pter-->17q11.1. The fourth patient is a girl with minor phenotypic features and mental retardation with an inverted duplication 18q10-->p11.31 combined with a terminal deletion of 18p32. The clinical pictures are compared with previously described patients with focus on long term outcome.
authors.affiliation: Department of Medical Genetics, Eberhard Karls University, Tuebingen, Germany. andreas.dufke@med.uni-tuebingen.de
authors.forename: A
authors.initials: A
authors.lastname: Dufke
authors.forename: S
authors.initials: S
authors.lastname: Singer
authors.forename: S
authors.initials: S
authors.lastname: Borell-Kost
authors.forename: M
authors.initials: M
authors.lastname: Stotter
authors.forename: D A
authors.initials: DA
authors.lastname: Pflumm
authors.forename: U A
authors.initials: UA
authors.lastname: Mau-Holzmann
authors.forename: H
authors.initials: H
authors.lastname: Starke
authors.forename: K
authors.initials: K
authors.lastname: Mrasek
authors.forename: H
authors.initials: H
authors.lastname: Enders
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D020223:Chromosome Painting; D002879:Chromosomes, Human, Pair 10; D002881:Chromosomes, Human, Pair 12; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D020732:Cytogenetic Analysis; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D018895:Microsatellite Repeats; D017384:Sequence Deletion; D014314:Trisomy / Q000235:genetics*