Balanced translocation karyotypes in patients with repetitive abortion. Case study and literature review

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.