title: A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation, and spectral karyotyping.
abstract: We report on a 29-year-old woman with a history of five spontaneous abortions and a balanced complex chromosome rearrangement (CCR) involving break points between chromosomes 8, 11, and 12. Fluorescence in situ hybridisation (FISH) in combination with giemsa trypsin banding techniques were essential for the identification of the breakpoints. In addition, the results were confirmed by 24-colour FISH using the spectral karyotyping system (SKY). The karyotype was 46,XX,t(8;11;12)(8qter-->8p10::12p10-->12pter;11pter--> 11q14::8p10-->8pter;12qter-->12p10::11q14-->11qter). Application of SKY facilitated detection of all three chromosomes involved and supported the localisation of the breakpoints by a single time and sample saving investigation.
authors.affiliation: Institute for Human Genetics, University of Leipzig, Philipp-Rosenthal Str. 55, D-04103, Leipzig, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
authors.forename: H
authors.initials: H
authors.lastname: Holland
authors.forename: M
authors.initials: M
authors.lastname: Köhler
authors.forename: U G
authors.initials: UG
authors.lastname: Froster
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping / Q000379:methods*; D008297:Male; D014178:Translocation, Genetic