Diagnosis is based on clinical findings and can be confirmed by cytogenetic testing, when the deletion is in an average of 5 Mb (millions of base pairs). Nowadays, it is a common practice to run an aCGH (array chromosome hybridization genome) study on peripheral blood of the patient, in order to delineate the extent of the loss of the genomic area, and the deleted genes.
Langer–Giedion syndrome
Legg–Calvé–Perthes disease
Bardet–Biedl syndrome
Fibrodysplasia ossificans progressiva
Daentl Townsend Siegel syndrome
Tricho-rhino-phalangeal syndrome Type 1
Schinzel–Giedion syndrome
Marshall–Smith syndrome