title: Balanced translocation karyotypes in patients with repetitive abortion. Case study and literature review.
abstract: Cytogenetic studies were conducted upon 100 consecutive couples with abortions. Eight balanced carrier translocation karyotypes were discovered (8%): three cases of Robertsonian translocations and five reciprocal translocations. Two structural variant karyotypes and a poly-X mosaic were also found. A review of the literature on repetitive abortion revealed 82 balanced translocations in 1,331 couples, a rate of 6.2%. Cytogenetic studied should be routine for patients with repetitive abortion. In the pooled series, 3.7% of couples with translocation had wastage, including some with normal offspring; 9.2% had malformed offspring; 62% of the carrier couples lacked the malformation history. Seventy-four percent of the translocations were reciprocal; risk rates for imbalanced progeny were undefined for 90% of the carrier couples. Only 11 imbalanced conceptuses were demonstrated cytogenetically in 262 pregnancies of the carrier group.
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000782:Aneuploidy; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D012730:Sex Chromosomes; D014178:Translocation, Genetic