AI Article Synopsis
- Robertsonian translocation t(13;14) is common in humans, but its meiotic segregation patterns and their implications for genetic counseling are not well studied.
- Researchers used multicolour fluorescence in-situ hybridization to analyze the segregation of chromosomes 13 and 14 in seven male carriers, also checking for interchromosomal effects on other chromosomes.
- The study found a predominant pattern of alternate segregation in sperm production, resulting in 83-88.23% normal sperm, with some carriers showing increased disomy rates for sex chromosomes, indicating a potential interchromosomal effect.
Article Abstract
Background: Robertsonian translocation t(13;14) is one of the most common structural reorganization in humans, but meiotic segregation studies in these carriers are still limited. The segregation pattern of the chromosomes involved, the possible influence of the translocated chromosomes on the synapsis and disjunction of other chromosome pairs [interchromosomal effects (ICE)] and the rates of unbalanced spermatozoa produced still deserve attention, not only to obtain a better characterization of the meiotic behaviour of this reorganization, but also to offer carrier couples accurate genetic counselling.
Methods: Multicolour fluorescence in-situ hybridization was used to analyse the segregation of chromosomes 13 and 14 and the possible occurrence of ICE (on chromosomes 18, 21, 22, X and Y) in seven male carriers of a t(13;14)(q10;q10).
Results And Conclusions: The individuals analysed showed a homogeneous segregation pattern, with a clear predominance of alternate segregations resulting in the production of normal/balanced spermatozoa (83-88.23%). A significant increase in the disomy rates for the sex chromosomes, which could be considered as a positive ICE, was observed in two of the carriers analysed.
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