Rett Syndrome – Chapter 3: The Clinical Genetics of Rett Syndrome (ebook)


Chapter 3 РThe Clinical Genetics of Rett Syndrome

Pediatricians are usually the clinicians who first encounter a child with suspected Rett syndrome (RTT) on their journey to a diagnosis. Once they reach the clinical geneticist, many of the primary investigations have already been carried out and the family will have often already been given the diagnosis by the pediatrician or the pediatric neurologist. The family will attend the genetics clinic for further information about the clinical aspects of RTT, its pattern of inheritance, and the recurrence risks.

About the book

Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant. Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder. It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher.