title: Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
abstract: Paracentric inversions (PAIs) are structural chromosomal rearrangements generally considered to be harmless. To date, only a few studies have been performed concerning the meiotic segregation of these rearrangements, using either the human-hamster fertilization system or fluorescence in situ hybridization (FISH) with centromeric or telomeric DNA probes. To improve the assessment of imbalances in PAI, we present a new strategy based on FISH assay using multiple bacterial artificial chromosome probes, which allow a precise localization of chromosome break points and the identification of all meiotic products in human sperm. Sperm samples of three cases with PAI were investigated: an inv(5)(q13.2q33.1), an inv(9)(q21.2q34.13) and an inv(14)(q23.2q32.13). The frequencies of spermatozoa with inverted chromosomes were 44.7% in inv(5), 42.7% in inv(9) and 46.7% in inv(14). The global incidences of unbalanced complements were 9.7, 12.6 and 3.7% in inv(5), inv(9) and inv(14), respectively. This report is the first study providing a detailed description of meiotic segregation patterns in human sperm by using a sperm FISH approach. This study demonstrates that the detailed analysis of segregation in PAI may provide important data for both genetic analysis and counseling of inversion carriers.
authors.affiliation: CHU Montpellier, Institute for Research in Biotherapy, Hôpital Saint-Eloi, Montpellier, France.
authors.forename: Samarth
authors.initials: S
authors.lastname: Bhatt
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
authors.forename: Kristin
authors.initials: K
authors.lastname: Mrasek
authors.forename: Jacques
authors.initials: J
authors.lastname: Puechberty
authors.forename: Marina
authors.initials: M
authors.lastname: Manvelyan
authors.forename: Friederike
authors.initials: F
authors.lastname: Hunstig
authors.forename: Genevieve
authors.initials: G
authors.lastname: Lefort
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: James
authors.initials: J
authors.lastname: Lespinasse
authors.forename: Pierre
authors.initials: P
authors.lastname: Sarda
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Samir
authors.initials: S
authors.lastname: Hamamah
authors.forename: Franck
authors.initials: F
authors.lastname: Pellestor
mesh_terms: D000328:Adult; D019457:Chromosome Breakage; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D020090:Chromosome Segregation; D022202:Chromosomes, Artificial, Bacterial; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D018895:Microsatellite Repeats; D008875:Middle Aged; D015335:Molecular Probes; D013094:Spermatozoa / Q000502:physiology*
chemical_list: D015335:Molecular Probes