Screening methods are mostly done for females to determine if they are carriers. Males do not have to be tested because those with the disorder will show symptoms close to the time they are born because the disorder is inherited from the X chromosome. Females can be tested if they are carriers by performing a X chromosome inactivation analysis on DNA isolated from the peripheral lymphocytes. The CAG repeat in this section must be amplified and methylated DNA must be sorted from unmethylated DNA with PCR. Carrier females will show skewed X-inactivation pattern (skewing close to 100%) with the mutated allele inactivated. This indicates a selection against cells with an active X chromosome with the mutated HDAC8 gene.
Wilson–Turner syndrome
Smith–Magenis syndrome
Wilson–Mikity syndrome
Kapur–Toriello syndrome
Parsonage–Turner syndrome
Rabson–Mendenhall syndrome
Malouf syndrome
Beckwith–Wiedemann syndrome