1. ¹CHU Montpellier, Institute for Research in Biotherapy, Hôpital Saint-Eloi, Montpellier, France
2. ²INSERM U847, Montpellier, France
3. ³CHU Montpellier, Service de Génétique Médicale, Hôpital Arnaud de Villeuneuve, Montpellier, France
4. ⁴Institute of Human Genetics and Anthropology, Jena, Germany
5. ⁵Department of Genetics and Laboratory of Cytogenetics, State University, Yerevan, Armenia
6. ⁶CHU Chambery, Laboratoire de Cytogénétique, Chambéry, France
7. ⁷Université Montpellier I, UFR de Médecine, Montpellier, France
8. ⁸CHU Montpellier, Unité Biologie Clinique d'AMP/DPI, Hôpital Arnaud de Villeuneuve, Montpellier, France

Correspondence: Dr F Pellestor, Department of Medicine and Biology of Reproduction, Arnaud de Villeneuve hospital, CHRU Montpellier, 371, avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex 5, France. Tel: +33 467335952; Fax: +33 467336290; E-mail: f-pellestor@chu-montpellier.fr

Received 22 January 2008; Revised 23 June 2008; Accepted 2 July 2008; Published online 6 August 2008.

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.