title: Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints.
abstract: A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian translocation or pericentric inversion 2 or 9 were not included. In summary, 100 break-events occurred in these patients, and 90 different chromosomal regions were involved. Thus, this study confirmed the presence of abnormal karyotypes in a subgroup of patients seeking infertility treatment. Breaks were demonstrated to appear preferentially in GTG-light bands in these patients. Furthermore, the observed breakpoints were associated with genomic regions prone to instability due to the presence of segmental duplications. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.
authors.affiliation: Department of Genetics and Laboratory of Cytogenetics, State University, Jerewan 375025, Armenia.
authors.forename: M
authors.initials: M
authors.lastname: Manvelyan
authors.forename: I
authors.initials: I
authors.lastname: Schreyer
authors.forename: I
authors.initials: I
authors.lastname: Höls-Herpertz
authors.forename: S
authors.initials: S
authors.lastname: Köhler
authors.forename: R
authors.initials: R
authors.lastname: Niemann
authors.forename: U
authors.initials: U
authors.lastname: Hehr
authors.forename: B
authors.initials: B
authors.lastname: Belitz
authors.forename: I
authors.initials: I
authors.lastname: Bartels
authors.forename: J
authors.initials: J
authors.lastname: Götz
authors.forename: D
authors.initials: D
authors.lastname: Huhle
authors.forename: M
authors.initials: M
authors.lastname: Kossakiewicz
authors.forename: H
authors.initials: H
authors.lastname: Tittelbach
authors.forename: S
authors.initials: S
authors.lastname: Neubauer
authors.forename: A
authors.initials: A
authors.lastname: Polityko
authors.forename: M-L
authors.initials: ML
authors.lastname: Mazauric
authors.forename: R
authors.initials: R
authors.lastname: Wegner
authors.forename: M
authors.initials: M
authors.lastname: Stumm
authors.forename: P
authors.initials: P
authors.lastname: Küpferling
authors.forename: F
authors.initials: F
authors.lastname: Süss
authors.forename: H
authors.initials: H
authors.lastname: Kunze
authors.forename: A
authors.initials: A
authors.lastname: Weise
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: K
authors.initials: K
authors.lastname: Mrasek
mesh_terms: D002871:Chromosome Banding; D019457:Chromosome Breakage; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic