Abstract
Genetic investigations are now indicated in almost all andrological topics ranging from isolated infertility to specific clinical entities such as hypogonadotropic hypogonadism. The spectrum of methods includes the classical cytogenetic examinations, such as the determination of the karyotype, as well as molecular cytogenetic procedures (e.g., FISH), and in particular, molecular genetic examinations (e.g., analysis of microdeletions, sequencing of genes). So-called next-generation sequencing opens up new possibilities and is rapidly changing diagnostics (and research). The results of genetic testing and their implications for affected individuals, their offspring, and families should be discussed during genetic counselling.
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Tüttelmann, F., Röpke, A. (2023). Cytogenetic and Molecular Genetic Diagnostics. In: Nieschlag, E., Behre, H.M., Kliesch, S., Nieschlag, S. (eds) Andrology. Springer, Cham. https://doi.org/10.1007/978-3-031-31574-9_8
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DOI: https://doi.org/10.1007/978-3-031-31574-9_8
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