What is the typical inheritance pattern of MECP2 Duplication Syndrome?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

MECP2 Duplication Syndrome primarily follows an X-linked inheritance pattern, which is characterized by mutations in the MECP2 gene located on the X chromosome. In the case of this syndrome, the duplications of the MECP2 gene often arise de novo, meaning they occur as new mutations in the affected individual rather than being inherited from a parent. However, while most cases are de novo, there are also instances where the duplications can be inherited, particularly if the mother carries the mutation.

Although the syndrome is predominantly associated with de novo mutations, it is not limited to that inheritance pattern. Therefore, a broader statement that includes the possibility of inheritance from a carrier parent aligns with the understanding of the condition. It’s important to recognize that while the majority of patients with MECP2 Duplication Syndrome have a new mutation, some mothers can be carriers of the duplication without being affected, and therefore can pass the mutation to their sons, who are at a higher risk of displaying symptoms due to their single X chromosome.

The other choices do not encapsulate the nuances of the inheritance pattern for MECP2 Duplication Syndrome. For example, it is not exclusively paternal inheritance, nor can it be classified strictly as X-linked recessive since the presence of an

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