XXX Syndrome in Cytogenetics

Since in secondary school, I start burn with curiosity on this description, SUPERWOMAN. Why a female with 47, XXX karyotype can be described as a ‘superwoman’ in Cytogenetics? Is she possesses any super power or advantage just like X-Men?

According to some Cytogenetics studies, females with a 47, XXX karyotype rarely show any physical abnormalities. Therefore, this syndrome is the least frequently detected chromosome aberration in Cytogenetics where that patient possesses one extra X chromosome. They are very soft and gentle than any other normal females in attitude and behavior. That’s why they are acknowledged as ‘superwoman’. Most of them lead to normal lives.

Can the superwomen get their pregnancy? Yes! Gonadal function is normal in majority patients, however, premature ovarian failure might occur too. They usually produce normal children, though there may be a slightly increased risk of non-disjunction occurred among them, which lead to birth of children with other abnormalities such as Down syndrome and Patau syndrome in Cytogenetics.

Frequently, a decrease in intelligence occurs, though it is not sufficiently severe to be classified as retardation. However, there are significant delay in motor and mental development including language and cognitive abilities. They also tend to have behavior disturbances and difficulties in making social contacts.

How could it be? Similar to most of the trisomy syndrome (the possession of a third chromosome in any type of chromosome which results in abnormalities), the superwoman is caused by the meiotic non-disjunction in Cytogenetics. Why meiotic non-disjunction will occur and how to prevent it? Let us explore about this in next section of Cytogenetics and Cancer Research.