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Can Females Have XYY Syndrome?

Published in Genetic Conditions 2 mins read

No, females cannot have XYY syndrome.

XYY syndrome, also known as Jacobs syndrome, is a genetic condition characterized by the presence of an extra Y chromosome in each cell of a male. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The presence of the extra Y chromosome (XYY) is what defines this syndrome, and it only occurs in males. The provided references consistently state that XYY syndrome affects only males. [2, 3, 5, 7, 9]

While there is mention of a rare case of a female with a 46,XY/47,XYY karyotype [1, 4], this does not mean the individual has XYY syndrome. This signifies a mosaicism, a condition where an individual has two or more genetically distinct cell lines with different chromosomal compositions within their body. In this specific case, some cells possess the typical XX female karyotype while others have the XYY male karyotype. This mosaicism leads to a complex interplay of genetic expressions, which may result in atypical phenotypes but does not constitute a diagnosis of XYY syndrome in the conventional sense. This example highlights the complexity of sex determination, where the presence of chromosomes doesn't always dictate the resulting phenotype. A female phenotype is possible even with the presence of some Y-chromosome material due to a complex interplay of genetics and developmental processes. [1, 4, 10] Swyer syndrome, for example, is a condition where individuals with XY chromosomes develop a female phenotype due to issues with sex hormone production. [8]

In summary, while chromosomal variations can lead to atypical development, XYY syndrome itself is strictly a male condition defined by the presence of an extra Y chromosome in all cells.

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