Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

This is a preview of subscription content, access via your institution.

Fig. 1


  1. 1.

    Smol T, Thuillier C, Boudry-Labis E, Dieux-Coeslier A, Duban-Bedu B, Caumes R, Bouquillon S, Manouvrier-Hanu S, Roche-Lestienne C, Ghoumid J (2020) Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. Neurogenet 21:67–72. https://doi.org/10.1007/s10048-019-00599-w

    CAS  Article  Google Scholar 

  2. 2.

    Smyk M, Poluha A, Jaszczuk I, Bartnik M, Bernaciak J, Nowakowska B (2016) Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay. Am J Med Genet A 170:1325–1329. https://doi.org/10.1002/ajmg.a.37579

    CAS  Article  Google Scholar 

  3. 3.

    Gurovich Y, Hanani Y, Bar O, Nadav G, Fleischer N, Gelbman D, Basel-Salmon L, Krawitz PM, Kamphausen SB, Zenker M, Bird LM, Gripp KW (2019) Identifying facial phenotypes of genetic disorders using deep learning. Nat Med 25:60–64. https://doi.org/10.1038/s41591-018-0279-0

    CAS  Article  PubMed  Google Scholar 

  4. 4.

    Mahajan MC, Narlikar GJ, Boyapaty G, Kingston RE, Weissman SM (2005) Heterogeneous nuclear ribonucleoprotein C1/C2, MeCP1, and SWI/SNF form a chromatin remodeling complex at the β-globin locus control region. Proc Natl Acad Sci U S A 102:15012–15017. https://doi.org/10.1073/pnas.0507596102

    CAS  Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information




All authors contributed to the study conception and design. The first draft of the manuscript was written by Giulia Pascolini and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Conceptualization: Giulia Pascolini; methodology: Giulia Pascolini, Emanuele Agolini, Rosella Pierantoni, Silvia Majore; formal analysis and investigation: Giulia Pascolini, Emanuele Agolini, Nicole Fleischer, Sara Loddo, Antonio Novelli, Laura Bernardini; writing—original draft preparation: Giulia Pascolini; writing—review and editing: Giulia Pascolini, Silvia Majore; supervision: Paola Grammatico.

Corresponding author

Correspondence to Giulia Pascolini.

Ethics declarations

Conflict of interest

Nicole Fleischer is an employee of FDNA Inc., the company providing Face2Gene.

Ethical approval

This study was conducted according to the Helsinki declaration and approved by the internal review board.

Informed consent

Informed consent for study and images publication was obtained.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Pascolini, G., Agolini, E., Fleischer, N. et al. Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication. Neurol Sci 41, 3751–3753 (2020). https://doi.org/10.1007/s10072-020-04510-6

Download citation