Fig. 3.

Strong family history of neurodevelopmental and psychiatric disease is associated with an excess of other hits and severe phenotypic outcome in 16p12.1 deletion probands. (a) Diagram showing phenotypic heterogeneity in 16 probands with 16p12.1 deletion (black=phenotype present, white=absent, gray=not assessed) and their family history of neurodevelopmental and psychiatric disease (red=strong, blue=mild/negative). Probands with strong family history (n=9) have (b) a more heterogeneous clinical manifestation (higher de Vries scores, one-tailed Mann–Whitney, p=0.04) and (c) a higher burden of other hits (one-tailed Mann–Whitney p=0.001) than those with mild or negative family history (n=7). (d) Probands with a strong family history exhibit a greater difference in burden of other hits compared with carrier parents (p=0.003). (e) Noncarrier parents from families with strong family history present a higher burden compared with those with mild/negative family history (one-tailed Mann–Whitney, p=0.01). NC Noncarrier