What chromosomal abnormalities are most associated with Dandy-Walker malformation?

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!

Dandy-Walker malformation is a congenital brain malformation involving the cerebellum and is associated with various chromosomal abnormalities and genetic syndromes. The correct choice reflects the fact that several genetic conditions can be linked with Dandy-Walker malformation.

Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), both severe chromosomal abnormalities, are well-documented associations with Dandy-Walker malformation. These conditions are characterized by serious developmental issues, and the presence of Dandy-Walker malformation can add to the complexity of the clinical picture.

Turner syndrome, caused by the absence of one X chromosome in females, and Noonan syndrome, which is characterized by specific physical features and congenital heart defects, can also display Dandy-Walker malformation as a secondary feature.

Additionally, Trisomy 21 (Down syndrome) has also been noted to sometimes be associated with Dandy-Walker malformation, along with Meckel-Gruber syndrome, which is a genetic condition involving cystic kidney disease and neural tube defects.

Considering these associations, the answer encompassing all of these chromosomal and genetic syndromes reflects the multifaceted nature of Dandy-Walker malformation's etiology. Thus

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