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Karyotype in Swyer syndrome
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Karyotype in Swyer syndrome

Swyer syndrome is a genetic disorder whose exact cause is not known, but it is usually due to alterations in the SRY gene. This gene is located on the short arm of the Y chromosome and is responsible for male sexual differentiation and masculinization of the external genitalia.

When a zygote is absent from the SRY gene or this gene is altered, the testicles are not formed and as a consequence, the phenotypic sex is female. However, the karyotype or set of chromosomes will be 46, XY. Therefore, there is no correlation between phenotype and genotype.

By (gynecologist), (embryologist) and (invitra staff).
Last Update: 01/20/2020
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