title: Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations.
abstract: We have used data from chromosomally unbalanced offspring observed at birth, as well as data from sperm chromosome analysis, to study the meiotic segregation of reciprocal translocations. Using data from a total of 1,597 unbalanced children, we have observed an excess in maternal origin for all modes of imbalance. This excess is particularly marked for the 3:1 unbalanced mode, for which we have also observed a maternal age effect, indicating a close relationship with autosomal trisomies. In addition, a statistical analysis of data from 34 different published studies using sperm chromosome analysis has demonstrated that factors which, for reasons of viability, produce a predisposition for a particular mode of imbalance at birth also appear to favor meiotic production of this type of imbalance. Thus the production of unbalanced gametes of a particular type is influenced by the size of the imbalance.
authors.affiliation: TIMC-IMAG CNRS UMR 5525, Université Joseph Fourier, Faculté de Médecine de Grenoble, La Tronche, France. Thomas.Faraut@imag.fr
authors.forename: T
authors.initials: T
authors.lastname: Faraut
authors.forename: M A
authors.initials: MA
authors.lastname: Mermet
authors.forename: J
authors.initials: J
authors.lastname: Demongeot
authors.forename: O
authors.initials: O
authors.lastname: Cohen
mesh_terms: D000375:Aging / Q000235:genetics; D020090:Chromosome Segregation / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D016014:Linear Models; D008297:Male; D008423:Maternal Age; D008540:Meiosis / Q000235:genetics*; D012641:Selection, Genetic; D012727:Sex Characteristics; D013094:Spermatozoa / Q000166:cytology / Q000378:metabolism; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics