{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n In a recent report, a neocentric small supernumerary marker chromosome (sSMC) comprising a 3.56‐Mb gain in the 1p21.3–p21.2 region was identified in a male patient with intellectual disability, severe speech deficits, dysmorphic features, and autistic traits."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " This chromosomal imbalance spans several important neurodevelopmental genes, including both protein‐coding and noncoding transcripts such as DPYD-IT1. Although its precise molecular function remains to be fully defined, DPYD-IT1—a noncoding RNA—appears to contribute to the maintenance of cellular and intercellular homeostasis during neurodevelopment. The observed overlap in clinical features between patients with either a microduplication (as seen in this case) or a reciprocal microdeletion of the 1p21.3 region supports the concept that variation in gene dosage, encompassing both coding genes and noncoding entities like DPYD-IT1, cumulatively disrupts normal developmental regulation. In essence, deregulation of DPYD-IT1, whether by increased or decreased copy number, is postulated to perturb the fine balance of gene networks pivotal for neurodevelopment, thereby contributing to the overlapping phenotypic spectrum observed in these syndromic cases."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Lukrecija Brečević, Martina Rinčić, Željka Krsnik, et al. "}, {"type": "b", "children": [{"type": "t", "text": "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 "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "DPYD"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " enigma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Neurosci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1515/tnsci-2015-0007"}], "href": "https://doi.org/10.1515/tnsci-2015-0007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28123791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28123791"}]}]}]}