title: Cytogenetic study in 50 couples with recurrent abortions.
abstract: The presence of chromosome abnormalities in couples with repeated spontaneous abortion is known even if the phenomenon is far from a complete assessment. A cytogenetic investigation in 50 couples with a history of two or more spontaneous abortions is referred to in this study. A peripheral blood lymphocyte culture was harvested for each subject and the slides were stained by G- and C-banding. Of the 100 individuals examined, 4 were carriers of balanced translocations, 3 of which were of the Robertsonian type. A chromosomal fragility (chromatidic and/or chromosomic gaps) was seen in 2 cases. The incidence of balanced translocations found here is 8% which is near to the mode (about 9%) observed in previous studies. Those frequencies are greater than in the general population (0.1-0.4%). This indicates that balanced translocations have some importance in causing abortion while this is not the case for other chromosomal abnormalities (e.g. pericentric inversions). Thus, cytogenetic analyses should be recommended in couples with repeated spontaneous abortions, when clinical data fail to clarify the cause.
mesh_terms: D000026:Abortion, Habitual / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic