title: Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
abstract: A thorough study of the heterochromatin organisation in the pericentromeric region and the proximal long (q) and short (p) arms of human chromosome 9 (HSA 9) revealed homology between 9p12 and 9q13-21.1, two regions that are usually not distinguishable by molecular cytogenetic techniques. Furthermore, the chromosomal regions 9p12 and 9q13-21.1 showed some level of homology with the short arms of the human acrocentric chromosomes. We studied five normal controls and 51 clinical cases: 48 with chromosome 9 heteromorphisms, one with an exceptionally large inversion and two with an additional derivative chromosome 9. Using fluorescence in situ hybridisation (FISH) with three differentially labelled chromosome 9-specific probes we were able to distinguish 12 heteromorphic patterns in addition to the most frequent pattern (defined as normal). In addition, we studied one inversion 9 case with the recently described multicolour banding (MCB) technique. Our results, and previously published findings, suggest several hotspots for recombination in the pericentromeric heterochromatin of HSA 9. They also demonstrate that constitutional inversions affecting the pericentromeric region of chromosome 9 carry breakpoints located preferentially in 9p12 or 9q13-21.1 and less frequently in 9q12.
authors.affiliation: Institute of Human Genetics and Anthropology, Jena, Germany.
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
authors.forename: Jörg
authors.initials: J
authors.lastname: Seidel
authors.forename: Wolfram
authors.initials: W
authors.lastname: Henn
authors.forename: Sylvia
authors.initials: S
authors.lastname: Reichardt
authors.forename: Marianne
authors.initials: M
authors.lastname: Volleth
authors.forename: Markus
authors.initials: M
authors.lastname: Stumm
authors.forename: Christine
authors.initials: C
authors.lastname: Behrend
authors.forename: Klaus R
authors.initials: KR
authors.lastname: Sandig
authors.forename: Christine
authors.initials: C
authors.lastname: Kelbova
authors.forename: Gabriele
authors.initials: G
authors.lastname: Senger
authors.forename: Beate
authors.initials: B
authors.lastname: Albrecht
authors.forename: Ingo
authors.initials: I
authors.lastname: Hansmann
authors.forename: Anita
authors.initials: A
authors.lastname: Heller
authors.forename: Uwe
authors.initials: U
authors.lastname: Claussen
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D012689:Sequence Homology, Nucleic Acid