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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
De Gruyter
2015-01-01
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Series: | Translational Neuroscience |
Subjects: | |
Online Access: | https://doi.org/10.1515/tnsci-2015-0007 |