What genetic condition is associated with the MECP2 gene and primarily affects males?

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MECP2 Duplication Syndrome is associated with mutations in the MECP2 gene, which plays a crucial role in the development and function of neurons in the brain. This genetic condition primarily affects males due to the pattern of inheritance, as it is located on the X chromosome. Males, having only one X chromosome (XY), express the syndrome more severely compared to females, who have two X chromosomes (XX) and may have a milder phenotype due to the presence of a potentially normal copy of the gene.

The MECP2 gene is essential for normal neurological function, and duplications or mutations in this gene can lead to significant developmental delays, loss of purposeful hand skills, and communicative abilities, among other symptoms. The distinguishing factor of MECP2 Duplication Syndrome is its specific association with the MECP2 gene, rather than chromosomal rearrangements or other types of genetic abnormalities described in the other options.

In contrast, balanced translocations, Robertsonian translocations, and unbalanced translocations refer to specific types of chromosomal abnormalities that may affect various chromosomes but are not linked to the MECP2 gene or specifically to conditions predominantly affecting males like MECP2 Duplication Syndrome.

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