1p36 deletion syndrome is considered to be one of the commonest chromosome deletion syndromes. It results in a clinically recognizable phenotype including dysmorphic features, mental retardation, developmental delay and others e.g. hearing abnormalities, visual abnormalities and cardiovascular manifestations. The diagnosis of 1p36 deletion syndrome is suggested by clinical findings and confirmed by detection of a deletion of the most distal band of the short arm of chromosome 1 (1p36). Conventional G-banded cytogenetic analysis, FISH, or array CGH can all be used to detect deletions; however, the complexity of some deletions may only be revealed by array CGH.