A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

► A boy with syndromic CLP and neuro-psychomotor delay is reported. ► aCGH analysis revealed a rare interstitial microduplication of 5p15.33. ► The CNV has approximately 300 kb and includes 5 protein coding genes. ► Our findings suggest a predisposing region for cleft lip-palate on 5p.