Structural differences in reciprocal translocations. Potential for a model of risk in Rcp

Hum Genet. 1979 Oct 1;51(2):171-82. doi: 10.1007/BF00287173.


Interchange segment sizes and the sizes of chromosome imbalance arising from the different modes of meiotic segregation were measured in a selected sample of 20 reciprocal translocations (Rep). The Rep were selected by two modes of ascertainment: (I) neonates with an unbalanced form of the translocation, and (II) couples with recurrent spontaneous abortions without evidence of full-term translocation aneuploid offspring. The measurements (% of haploid autosomal length: %HAL) were plotted as the observed or potential chromosomal imbalance with monosomy (abscissa) and trisomy (ordinate). It was found that (a) the interchange segments were larger in the spontaneous abortion Rcp, (b) that all of the imbalances observed in full-term neonates plotted close to the origin and to the left of the line joining 4% trisomy to 2% monosomy, and (c) the imbalances observed in the neonates in each individual Rcp were of the smallest size possible arising by any segregation mode. It was concluded that a major factor in the survival to term of aneuploid conceptuses is the size (proportion of genome) of the chromosome abnormality, irrespective of the origin of the chromosome regions. These results are discussed in relation to their use as a model to evaluate the risk of abnormal offspring in the progeny of translocation heterozygotes (the Chromosome Imbalance Size-Viability Model).

MeSH terms

  • Abortion, Spontaneous
  • Aneuploidy
  • Chromosome Aberrations
  • Female
  • Fetus
  • Genetic Carrier Screening
  • Humans
  • Infant, Newborn
  • Meiosis
  • Models, Biological
  • Pregnancy
  • Risk
  • Translocation, Genetic*
  • Trisomy