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During this process, doctors discovered a missing segment in a crucial gene involved in neuron formation. This gene's deletion could explain many developmental deficits observed in their children, such as learning disabilities and motor delays. Confirming this genetic anomaly required blood samples from the children and the parents to ensure it was an inherited mutation and to understand its implications fully.
An important aspect highlighted here is the diagnostic process—how advanced technology sheds light on previously undetectable genetic factors, proving vital in finally pinpointing the cause of their children's conditions. The family was advised that the final results could take months to a year, but even preliminary knowledge brought relief and clarity.