What is the inheritance pattern of Lesch-Nyhan 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!

Lesch-Nyhan Syndrome is an inherited disorder that is characterized by symptoms such as self-mutilation, neurological impairment, and hyperuricemia due to the deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). The pattern of inheritance for this condition is X-linked recessive, which means that the gene responsible for the syndrome is located on the X chromosome.

In X-linked recessive conditions, males, who have one X and one Y chromosome, are more likely to express the disorder if they inherit an affected X chromosome, since they do not have a second X chromosome that could mask the mutation. Females, who have two X chromosomes, can be carriers of the disease if they inherit one affected X chromosome while typically only expressing the condition if both of their X chromosomes are affected.

This inheritance pattern is significant in genetic counseling, as it allows clinicians to predict the likelihood of the disorder appearing in future generations, especially in families with a history of this syndrome. Given this context, the correct identification of Lesch-Nyhan Syndrome as X-linked recessive is crucial for understanding its genetic implications and implications for affected individuals and their families.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy