What genetic inheritance pattern is associated with Achondroplasia?

Study for the Maternal-Fetal Medicine (MFM) Qualifying Exam. Explore comprehensive flashcards and detailed multiple-choice questions, each with hints and explanations to prepare effectively. Achieve success with confidence!

Achondroplasia is associated with an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene, inherited from an affected parent, is sufficient to cause the condition. The gene responsible for achondroplasia is located on chromosome 4, and mutations in the FGFR3 gene lead to disruptions in bone growth, resulting in the characteristic features of the disorder, such as short stature and disproportionate limb length.

In autosomal dominant inheritance, the likelihood of passing the condition to offspring is 50% for each pregnancy if one parent carries the mutation. This contrasts with autosomal recessive conditions, where two copies of the mutated gene are needed for the condition to manifest. X-linked dominant conditions would require the gene to be located on the X chromosome, affecting males and females differently, which does not apply to achondroplasia. Codominance refers to a situation where both alleles in a heterozygote are fully expressed, which is also not relevant in this context.

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