Fluorescence in situ hybridization analysis, performed with chromosome specific DNA probes labeled with
fluorochromes, is a simple and reliable tool for the indirect study of aneuploidies in interphase cells such as spermatozoa.
It is known that infertile male patients with poor sperm quality, due to different causes, produce cytogenetically abnormal
spermatozoa despite a normal constitutional karyotype as a result of an altered intra-testicular environment that negatively
affects the mechanisms controlling chromosome segregation during cell division. A particular subgroup of this category is
composed of individuals with systematic sperm defects, characterized by an identical, specific alteration that affects the
vast majority of their sperm population. Altered meiotic segregation has been described mainly in globozoospermia and in
sperm with dysplasia of the fibrous sheath.
Moreover, we also considered sperm aneuploidies in the presence of somatic chromosome abnormalities: numerical
chromosomal anomalies, such as the presence of an extra chromosome and structural chromosomal anomalies, including
translocations and inversions. It is known that somatic chromosomal abnormalities are often associated with infertility and
have definite consequences on the cytogenetic anomalies observed in spermatozoa.
Since individuals with abnormal semen parameters, also those that are carriers of a constitutional abnormal karyotype,
make up the majority of intracytoplasmic sperm injection candidates, it is of great interest to study the chromosomal
constitution of their spermatozoa.
The problem of the possible presence of aneuploidy in sperm from infertile men should be seriously considered due to the
documented risk of the transmission of a chromosomal imbalance to offspring.