Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma

We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic features, and hyperactivity with elements of a...

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Bibliographic Details
Main Authors: Brečević Lukrecija, Rinčić Martina, Krsnik Željka, Sedmak Goran, Hamid Ahmed B., Kosyakova Nadezda, Galić Ivan, Liehr Thomas, Borovečki Fran
Format: Article
Language:English
Published: De Gruyter 2015-01-01
Series:Translational Neuroscience
Subjects:
Online Access:https://doi.org/10.1515/tnsci-2015-0007