What aspect of family history might be significant for a child diagnosed with Fragile X syndrome?

Get ready for the UVA Family Medicine Test. Utilize our comprehensive quiz with flashcards and detailed explanations to enhance your knowledge. Prepare effectively for your exam!

In the context of Fragile X syndrome, a significant aspect of family history is the presence of relatives with intellectual disabilities. Specifically, a maternal uncle with mild intellectual disability is particularly relevant because Fragile X syndrome is an X-linked genetic disorder. This condition often affects males more severely than females, and carriers (often females) may have relatives who exhibit varying degrees of intellectual disabilities.

Due to the inheritance pattern of the FMR1 gene mutation associated with Fragile X syndrome, maternal family history can be crucial in understanding the risk of transmission to offspring. A maternal uncle’s mild mental retardation could indicate that the maternal side carries the genetic mutation, hence heightening concern for the child’s diagnosis. This context emphasizes the importance of maternal lineage in X-linked conditions, making this family history detail significant in diagnosing and understanding Fragile X syndrome's implications within the family.

While the presence of a sibling with autism might raise questions about neurodevelopmental disorders, it does not directly indicate the same genetic factors at play as Fragile X syndrome does. Other family history elements like a maternal grandfather with Alzheimer’s or a paternal grandmother with bipolar disorder, while relevant for other conditions, do not specifically correlate with the risk factors associated with Fragile X syndrome.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy