Final answer:
Human females with XY chromosomes and a mutation in their androgen receptor gene have Androgen Insensitivity Syndrome. Swyer syndrome is related to mutations in the SRY gene, while Turner and Klinefelter syndromes are caused by specific sex chromosome abnormalities.
Step-by-step explanation:
Human females with XY chromosomes and a mutation in their androgen receptor gene have Androgen Insensitivity Syndrome (AIS). In AIS, the body cannot respond properly to male sex hormones (androgens), leading to the development of female characteristics despite having male chromosomes. Swyer syndrome, on the other hand, is caused by mutations or deletions of the SRY gene on the Y chromosome. Turner syndrome is characterized by an XO genotype and results in various physical and reproductive issues.
In the context of Klinefelter syndrome, individuals have an XXY genotype or even more complex variations with additional X chromosomes (up to XXXXY). Persons with this syndrome typically have male characteristics but display features such as small testes, enlarged breasts, and reduced body hair. An individual with more than one X chromosome will inactivate all but one to compensate for the excess genetic dosage, visible as Barr bodies in each cell nucleus.