Fragile X syndrome and other causes
of devlopmental delay
- GP's role
- Developmental delay and intellectual disability
- Genetic causes of DD/ID
- Chromosomal conditions
- Single gene conditions
- Congenital infections/teratogens
- Individuals with conditions that can cause developmental delay may present at different ages
- Prenatally
- At birth or during the neonatal period
- In infancy
- During early childhood
- During school age years
- Fragile X syndrome
- Features
- Males with a full mutation
- Females with a full mutation
- Individuals with a premutation
- At-risk individuals
- Genetics
- Inheritance pattern
- Table 1: Repeat numbers and variable presentation of fragile X syndrome
- Prevalence
- Investigations
- Preconception testing
- Prenatal testing
- Figure 1: Family pedigree of fragile X syndrome showing genotype
- Management
- Implications for other family members
- Referral information
- Further information