Achondroplasia is a genetic disorder that results in dwarfism due to a mutation in the FGFR3 gene. Individuals with achondroplasia have short stature, disproportionate limbs, and other physical characteristics. It is an autosomal dominant condition, meaning that a child only needs to inherit one copy of the mutated gene from a parent to develop the disorder.
A pedigree chart is a diagram that shows the genetic relationships within a family. It is a valuable tool for tracking the inheritance of traits, including genetic disorders like achondroplasia. In a pedigree chart, squares represent males, circles represent females, and shaded symbols indicate individuals with the specific trait being studied.
Pedigree Chart For Achondroplasia
Interpreting a Pedigree Chart for Achondroplasia
In a pedigree chart for achondroplasia, individuals with the disorder will be represented by shaded symbols. If both parents are unaffected, but their child has achondroplasia, it suggests a new mutation in the FGFR3 gene. If one parent has achondroplasia, there is a 50% chance that their child will inherit the disorder. Understanding the patterns of inheritance in a pedigree chart can help predict the likelihood of passing on achondroplasia to future generations.