Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

Figure 1

1q21.3 deletion identified in the proband. The deletion contains 65 genes, including 35 genes referenced in the Online Mendelian Inheritance in Man (lower panel) (a). Fluorescence in situ hybridization (probe RP11-307C12, red spots) confirmed that the deletion was present in the proband but not in his parents (b).

(a)

(b)