title: Heteromorphic variants of chromosome 9.
abstract: BACKGROUND
  Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers.
  
  
  RESULTS
  In this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph (11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes.
  
  
  CONCLUSIONS
  Based on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants.
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743, Jena, Germany. i8lith@mti.uni-jena.de.
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosyakova
authors.forename: Ani
authors.initials: A
authors.lastname: Grigorian
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Marina
authors.initials: M
authors.lastname: Manvelyan
authors.forename: Isabella
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authors.forename: Hasmik
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authors.lastname: Egorova
authors.forename: Evgenia
authors.initials: E
authors.lastname: Jaroshevich
authors.forename: Alla
authors.initials: A
authors.lastname: Frolova
authors.forename: Natalia
authors.initials: N
authors.lastname: Shorokh
authors.forename: Irina V
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authors.lastname: Naumchik
authors.forename: Marianne
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authors.lastname: Schreyer
authors.forename: Heike
authors.initials: H
authors.lastname: Nelle
authors.forename: Markus
authors.initials: M
authors.lastname: Stumm
authors.forename: Rolf-Dieter
authors.initials: RD
authors.lastname: Wegner
authors.forename: Gisela
authors.initials: G
authors.lastname: Reising-Ackermann
authors.forename: Martina
authors.initials: M
authors.lastname: Merkas
authors.forename: Lukretija
authors.initials: L
authors.lastname: Brecevic
authors.forename: Thomas
authors.initials: T
authors.lastname: Martin
authors.forename: Laura
authors.initials: L
authors.lastname: Rodríguez
authors.forename: Samarth
authors.initials: S
authors.lastname: Bhatt
authors.forename: Monika
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authors.lastname: Ziegler
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authors.initials: Mde B
authors.lastname: Cioffi
authors.forename: Emel
authors.initials: E
authors.lastname: Ergul
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