Segregation of chromosomes in sperm of Robertsonian translocation carriers.
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.
Roux
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Service de Génétique Histologie Biologie du Développement et de la Reproduction, EA 3185 Génétique et Reproduction IFR 133 IBCT, CECOS Franche-Comté Bourgogne, CHU Saint Jacques, Besançon, France. christophe.roux@ufc-chu.univ-fcomte.fr
Tripogney
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Morel
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Joanne
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Fellmann
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Clavequin
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Bresson
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D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008540:Meiosis; D013094:Spermatozoa / Q000166:cytology / Q000502:physiology* / Q000648:ultrastructure; D014178:Translocation, Genetic