Segregation of chromosomes in sperm of Robertsonian translocation carriers

• Published in: Cytogenetic and genome research Vol. 111; no. 3-4; pp. 291 - 296
• Main Authors: Roux, C., Tripogney, C., Morel, F., Joanne, C., Fellmann, F., Clavequin, M.C., Bresson, J.L.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2005
• Subjects: Analysis of Human Germ Cells in Individuals with Somatic Chromosome Abnormality; Chromosomes, Human, Pair 13 - genetics; Chromosomes, Human, Pair 14 - genetics; Chromosomes, Human, Pair 21 - genetics; Genetic Carrier Screening; Humans; Male; Meiosis; Spermatozoa - cytology; Spermatozoa - physiology; Spermatozoa - ultrastructure; Translocation, Genetic
• ISBN: 3805580061; 9783805580069
• ISSN: 1424-8581; 1424-859X
• DOI: 10.1159/000086902

Robertsonian translocations are the most frequent structural chromosomal abnormalities in humans and can affect fertility, with various degrees of sperm alterations in men; or the pregnancy outcome of the carriers. The studies on meiotic segregation of chromosomes in sperm of Robertsonian translocation males find a majority of normal or balanced spermatozoa for the chromosomes related to the translocation (mean 85.42%; range 60–96.60%). Furthermore, recent studies suggest an interchromosomal effect. Studies on spermatozoa from translocation carriers, and in mouse models help the comprehension of the meiotic segregation mechanisms. Results of meiotic segregation analysis in man could be integrated in genetic counselling especially when assisted reproductive technology is required.