{
  "abstract": "Background\n\n1q21.1 copy number variations (CNVs) are recurrent rearrangements with a clinical spectrum, from neurodevelopmental disorders and congenital anomalies to apparently unaffected carrier status, reflecting incomplete penetrance and variable expressivity.Methods\n\nOur chromosomal microarray (CytoScan HD) database was retrospectively screened for pathogenic or likely pathogenic 1q21.1 CNVs.Results\n\nTwenty probands from 19 families (14 postnatal, 6 prenatal) carried 21 CNV events: 11 deletions (52.4%) and 10 duplications (47.6%). Of these, 16 (76.2%) were confined to the distal segment, 3 (14.3%) to the proximal segment, and 2 (9.5%) spanned both. One proband carried coexisting proximal duplication and distal deletion, both inherited from an apparently unaffected father. Of the 17 probands (85%) with parental testing, 7 (41.2%) had de novo and 10 (58.8%) inherited CNVs. Distal CNVs were mostly observed in probands with neurodevelopmental or cardiac phenotypes, whereas bilateral upper extremity anomalies were observed in both prenatally ascertained fetuses with isolated proximal deletions. Corpus callosum atrophy and choanal atresia were infrequently reported co-occurring findings, whereas prenatal intracranial hemorrhage was potentially novel; each occurred in one proband. Given the small proximal subgroup and differing ascertainment, these segment-associated trends are descriptive.Conclusions\n\nThis series highlights the relevance of segment localization and parental segregation data in interpreting 1q21.1 CNVs.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medical Genetics, University of Health Sciences Basaksehir Cam and Sakura City Hospital, Istanbul 34460, Turkey.",
    "Department of Pediatric Genetics, University of Health Sciences Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.",
    "Nevagen Genetic Diagnosis Center, Istanbul 34010, Turkey.",
    "Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Biruni University, Istanbul 34460, Turkey.",
    "Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Istanbul Atlas University, Istanbul 34203, Turkey."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Tuna Eren Esen",
      "orcid": "0000-0001-8714-4768"
    },
    {
      "affs": [
        0
      ],
      "name": "Lale Yilmaz Celik"
    },
    {
      "affs": [
        0
      ],
      "name": "Aydeniz Aydin Gumus",
      "orcid": "0000-0002-5879-6385"
    },
    {
      "affs": [
        0
      ],
      "name": "Pelin Ercoskun"
    },
    {
      "affs": [
        1
      ],
      "name": "Serdar Bozlak",
      "orcid": "0000-0001-7275-431X"
    },
    {
      "affs": [
        2
      ],
      "name": "Alper Gezdirici",
      "orcid": "0000-0002-2432-9279"
    },
    {
      "affs": [
        3
      ],
      "name": "Cuneyd Yavas",
      "orcid": "0000-0002-1597-5922"
    },
    {
      "affs": [
        4
      ],
      "name": "Ilknur Yilmaz",
      "orcid": "0000-0002-5250-3633"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9ys1kaznbzyec.bib",
  "cited_by": 0,
  "doi": "10.3390/genes17101284",
  "fulltext_url": "https://europepmc.org/articles/PMC13704297",
  "id": "9ys1kaznbzyec",
  "issns": [
    "2073-4425"
  ],
  "landing_url": "https://europepmc.org/article/MED/42938400",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1311|Genomic variations and chromosomal abnormalities"
    ]
  ],
  "openalex": "W7222127652",
  "pdf_url": "https://europepmc.org/articles/PMC13704297?pdf=render",
  "pmcid": "PMC13704297",
  "pmid": "42938400",
  "published": "2026-10-15",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/9ys1kaznbzyec.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:12Z",
      "native_id": "MED:42938400",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42938400"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomic variations and chromosomal abnormalities",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series.",
  "title_text": "Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:22:12Z",
  "url": "https://research.draconitic.com/paper/9ys1kaznbzyec",
  "venue": "Genes",
  "versions": []
}