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01-12-2020 | Intellectual Disability | Letter to the Editor

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

Authors: Giulia Pascolini, Emanuele Agolini, Nicole Fleischer, Rosella Pierantoni, Sara Loddo, Antonio Novelli, Laura Bernardini, Silvia Majore, Paola Grammatico

Published in: Neurological Sciences | Issue 12/2020

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To the Editor: …

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-wCrossRef

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.37579CrossRef

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/s41591-018-0279-0CrossRefPubMed

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.0507596102CrossRefPubMedPubMedCentral

Title: Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication
Authors: Giulia Pascolini
Emanuele Agolini
Nicole Fleischer
Rosella Pierantoni
Sara Loddo
Antonio Novelli
Laura Bernardini
Silvia Majore
Paola Grammatico
Publication date: 01-12-2020
Publisher: Springer International Publishing
Keywords: Intellectual Disability
Intellectual Disability
Overweight
Published in: Neurological Sciences / Issue 12/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04510-6

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

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