Which genetic conditions are associated with lissencephaly?

Prepare for the ABGC Boards Exam. Study with interactive quizzes, flashcards, and detailed explanations. Enhance your understanding and excel in your certification exam!

Lissencephaly, a condition characterized by a smooth brain due to a lack of normal convolutions, is indeed associated with specific genetic syndromes. Miller-Dieker syndrome and Walker-Warburg syndrome are notably linked to lissencephaly.

Miller-Dieker syndrome is caused by a deletion in chromosome 17p13.3 and is commonly characterized by developmental delay, seizures, and facial dysmorphisms, all of which pair with the lissencephaly phenotype. This lissencephaly is due to abnormal neuronal migration during brain development. Similarly, Walker-Warburg syndrome is a severe type of brain malformation involving lissencephaly and is often tied to mutations in genes responsible for brain and muscle development, leading to complex neurological issues.

In contrast, the other listed genetic conditions, such as Down syndrome, Turner syndrome, and Prader-Willi syndrome, are not directly linked to lissencephaly, even though they have their own distinct features and associated complications. Understanding the specific genetic foundations and manifestations of these conditions is crucial in genetics, especially in relation to their impacts on brain development and potential diagnosis.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy