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In this chapter, recent studies on chromosome abnormalities detected in domestic mammals, including livestock (cattle, pig and horse) and companion animals (dog and cat), are discussed.

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Also, locus-specific probes are useful in cytogenetic diagnosis, and such probes are derived from genome libraries, usually cloned in bacterial artificial chromosome (BAC) vectors (https://bacpac.chori.org/).

Metaphase spread with a translocation between X and Y chromosomes – t(X; Y)(p22;p12), in a cat with disorder of sex development. Cytogenetic evaluation is an important step in the diagnosis of infertile or sterile animals.

New molecular and cytogenetic tools and techniques have given opportunities for a precise identification of chromosome mutations.

A wide range of molecular probes are commercially available for the human and the mouse, but not for domestic animal species.

Therefore, a homemade preparation of the probes for these species is required.

Genetic background of disorders of sex development (DSD) and impaired fertility (IF) accompanied with normal sex development are important issues in animal breeding.

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