Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Abstract

Structural reorganization carriers usually present compromised fertility accompanied by an increased risk of producing gametes with chromosomal abnormalities that can be transmitted to the offspring. In part these imbalances are ascribed to result from the occurrence of meiotic disturbances produced by the rearrangements in the proper segregation of other chromosome pairs. This phenomenon of interference has been called interchromosomal effect (ICE). Several studies have been performed to assess the occurrence of ICE in structural reorganization carriers by analyzing the frequencies of numerical abnormalities in the gametes. Nevertheless, the occurrence and distribution of these disturbing events still is a controversial issue. In this work we present compiled data from 130 sperm fluorescent in situ hybridization (FISH) studies performed in carriers of the most frequent structural rearrangements in humans: 44 Robertsonian translocations, 66 reciprocal translocations and 13 inversions. Data from 7 complex/multiple rearrangements will be considered in a separate group.

Significant increases of gametes with numerical abnormalities have been detected in all types of reorganization carriers. Among the groups of non-complex/multiple rearrangements, Robertsonian translocations appear to be the most prone to produce such interference (54.5%) closely followed by reciprocal translocations (43.9%). In contrast, ICE's were only detected in 7.7% of the inversion carriers analyzed. The presence of complex/multiple rearrangements seems to be an important factor for promoting ICE, as 71.4% of these carriers presented increased rates of gametes with numerical abnormalities. Altogether, almost half of the structural reorganization carriers (45.4%) present a higher reproductive risk of producing aneuploid/diploid spermatozoa compared to the general population. This high incidence has been obtained by analyzing a small set of chromosomes, suggesting that underlying meiotic disorders could be present in these individuals.

Further ICE studies in structural reorganization carriers will help to clarify the still unknown predisposing cytogenetic features that promote this phenomenon.

Keywords:

• FISH
• interchromosomal effect
• structural reorganization carriers

Declaration of Interest: This work was funded by project 2009 SGR-282 (Generalitat de Catalunya). EA is recipient of a mobility grant (JC 2010-0247) from the Ministerio de Educación (Gobierno de España). The authors declare no competing financial interests.