Segregation of chromosomes in sperm of Robertsonian translocation carriers.

Robertsonian translocations are the most frequent structural chromosomal abnormalities in humans and can affect fertility, with various degrees of sperm alterations in men; or the pregnancy outcome of the carriers. The studies on meiotic segregation of chromosomes in sperm of Robertsonian translocation males find a majority of normal or balanced spermatozoa for the chromosomes related to the translocation (mean 85.42%; range 60-96.

[Nuclear quality of the spermatozoon: exploration tests of the chromatin of human spermatozoa (nuclear proteins)].

During spermiogenesis replacement of histones by protamines results in a highly condensed chromatin. Normal chromatin condensation is important for the function of the spermatozoa to carry the paternal genome. Abnormal chromatin can produce DNA damage such as denaturation or fragmentation and can be associated with impaired spermatogenesis.

Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers.

Objective: To determine the meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers.

Design: Analysis of sperm nuclei by fluorescence in situ hybridization (FISH).