We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649592 | PMC |
| http://dx.doi.org/10.1038/s41439-022-00215-8 | DOI Listing |
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