Pairing and synapsis in oocytes from female fetuses with euploid and aneuploid chromosome complements

• DOI: 10.1530/rep-06-0243
• Publication Date: 2007-07-06T18:52:55Z
• Authors: P Robles; I Roig; R Garcia; A Ortega; J Egozcue; L L Cabero; M Garcia
• Keywords: 0301 basic medicine; Chromosomes, Human, X; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 21; Synaptonemal Complex; Fluorescent Antibody Technique; Trisomy; Aneuploidy; Chromosome Pairing; 03 medical and health sciences; Fetus; Oogenesis; Microscopy, Fluorescence; Case-Control Studies; Image Interpretation, Computer-Assisted; Oocytes; Chromosomes, Human; Humans; Female; Pachytene Stage; In Situ Hybridization, Fluorescence

Only little is known about the meiotic prophase events in human oocytes, although some of them are involved in the origin of aneuploidies. Here, a broad study of the pairing and synaptic processes in 3263 human euploid and 2613 aneuploid oocytes (47,XX, +21 and 47,XX, +13), using different techniques and methods, is presented in order to elucidate the characteristics of this essential meiotic process. Our results reaffirm the existence of a common high efficiency in the pairing process leading to the obtainment of a bivalent for all chromosomes studied in euploid and aneuploid cases. Nevertheless, this high efficiency was insufficient to consistently produce trivalents in aneuploid oocytes. Trivalent 21 was only observed in 48.8% of the 47,XX, +21 pachytene-stage oocytes studied, and trivalent 13 was found in 68.7% of the 47,XX, +13 pachytene-stage oocytes analyzed. Our data confirm the hypothesis which suggests that in human oocytes the presence of an extra chromosome could interfere in bouquet dynamics. In addition, the pairing process of the X chromosome is altered in trisomic 21 oocytes, providing evidence of the influence that an extra chromosome 21 may cause meiotic progression.