Diagnosis is achieved by examining the structure of the chromosomes through karyotyping; while once born, one can do the following to ascertain a diagnosis of the condition: * MRI * EEG
Ring chromosome 14 syndrome
Ring chromosome 20 syndrome
Smith Martin Dodd syndrome
Kaufman oculocerebrofacial syndrome
13q deletion syndrome
2q37 deletion syndrome
22q11.2 duplication syndrome
8p23.1 duplication syndrome