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Chromosome Analysis

Chromosome analysis (karyotyping) is a diagnostic tests which enables the visualization and differential staining of all 46 human

chromosomes. In this way deviations from the normal number and structure/morphology of the chromosomes can be diagnosed. A common genetic condition among infertile men is Klinefelter Syndrome. Its frequency in the subpopulation of infertile men is 1 in 10 which is much higher than its frequency in the general population 1 in 1000. Men with Klinefelter syndrome have an extra X chromosome, which means their karyotype is 47, XXY. They suffer from severe male factor infertility and often possess the following distinctive physical features – breast development, greater height, less body hair and smaller genitals.

If Klinefelter syndrome is suspected, it is very important to do a karyotype, because the use of assisted reproductive techniques (ART) does not guarantee the absence of chromosomal aberrations in the offspring/s.