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. Author manuscript; available in PMC: 2019 Apr 2.
Published in final edited form as: Genet Med. 2018 Sep 7;21(4):816–825. doi: 10.1038/s41436-018-0266-3

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.

Fig. 3

(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