- Subject index
Reflecting the enormous changes that have taken place in our knowledge and understanding of developmental disorders, this groundbreaking international volume brings this vast and complex field together for the first time. The editors have collected together the world’s leading academic scholars and clinicians, to explore how current research across a range of different disciplines can inform academic knowledge and clinical practice and help to improve the lives of individuals and their families.The SAGE Handbook of Developmental Disorders is a central reference in the field for all academics, researchers, clinicians and advanced students involved in the study of developmental disorders, including those in clinical psychology, child psychiatry, child mental health, child genetics and pediatrics, speech language pathology, and developmental disabilities and special education.
Chapter 3: Fragile X Syndrome: Medical and Genetic Aspects
Fragile X Syndrome: Medical and Genetic Aspects
Fragile X syndrome (FXS) is the most common identifiable inherited cause of intellectual disability and the most common known single-gene mutation leading to autism. FXS is nearly always caused by expansions of a CGG repeat in the 5′ untranslated region (5′UTR) of the fragile X mental retardation 1 (FMR1) gene (Verkerk et al., 1991), which is located in the terminal portion (Xq27.3) of the long arm of the X chromosome. FXS is established on the basis of genotyping of the FMR1 gene, which includes both polymerase chain reaction (PCR) and Southern blot analyses. The normal range of the CGG repeat element is 5 to 44 CGG ...