Question

Human females with XY chromosomes and a phenotype that includes the absence of a uterus and ovaries and the presence of testes are likely to have which of the following mutations?

A. Mutation in the SRY gene.
B. Deletion of the X chromosome.
C. Trisomy of chromosome 21.
D. Mutation in the androgen receptor gene.

Answer 1

Females with XY chromosomes and a female phenotype including no uterus and presence of testes likely have Swyer syndrome due to a mutation in the SRY gene.

Step-by-step explanation:

Human females with XY chromosomes and a phenotype that includes the absence of a uterus and ovaries and the presence of testes are likely experiencing Swyer syndrome. Swyer syndrome is caused by a mutation in the SRY gene. The SRY gene, located on the Y chromosome, is responsible for initiating the development of male sex characteristics in the embryo. If this gene is mutated or deleted, the individual may develop a typically female external phenotype despite having XY chromosomes. This condition does not align with a deletion of the X chromosome, trisomy of chromosome 21, or mutations in the androgen receptor gene, which are associated with other genetic conditions.