Robertsonian translocations are the most common structural dicentric rearrangements in humans. The stability of these dicentrics is attributed to the inactivation of one centromere by mechanisms which are currently unknown. The presence and amounts of centromeric proteins (CENPs) differ between the centromeres of the few dicentrics which have been studied, providing a limited understanding of t...

Mice heterozygous for Robertsonian centric fusion chromosomal translocations frequently produce aneuploid sperm. In this study RBJ/Dn x C57BL/6J F1 males, heterozygous for four Robertsonian translocations (2N=36), were analyzed to determine effects on germ cells of error during meiosis. Analysis of sperm by three color fluorescence in situ hybridization revealed significantly elevated aneuploid...

Purpose
 A number of mechanisms have been proposed for the effect chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The aim this study is to evaluate chromosome break areas count in light literature.
 Material Methods
 was conducted data 16 male patients with reciprocal or Robertso...

In translocation carriers, the presence of aneuploidy for the chromosomes unrelated to the rearrangement may lead to an additional risk of abnormal pregnancy or implantation failure. Consequently, it may be important to analyse not only the chromosomes involved in the rearrangement but also the rest of chromosomes. We combined spectral karyotyping (SKY) and comparative genomic hybridization (CG...

• Chromosome rearrangements include Robertsonian and reciprocal translocations (the most common form of chromosome abnormality in humans, present in approximately 1 in 500 individuals), periand paracentric inversions, interand intra-chromosomal insertions, deletions, duplications, and complex chromosome rearrangements (CCRs). • In all cases presenting for PGD, the risk of viable abnormality sho...

Thirty-six infants were identified by cytogenetic screening at birth as having balanced rearrangements of their autosomes, and 30 of them took part in a longitudinal study of their development, together with four of their affected sibs. With the exception of one child with a de novo reciprocal translocation who died, all children attended normal schools. Congenital malformations and short statu...