{
  "abstract": "Trisomy 22 is identified in 2%-5% of spontaneous abortions across various populations, making it the second most common trisomy in spontaneous abortions. Liveborn patients with complete trisomy 22 are rare and present with variable clinical findings. A detailed clinical report of a term female neonate with complete trisomy 22 was compiled after obtaining informed consent from her mother. The neonate was born via spontaneous vaginal delivery, and resuscitation included intubation after multiple attempts. She presented with multiple congenital anomalies, including a single umbilical artery, microcephaly, dysmorphic facial features, absent red reflex, corneal haze, irregular pupil, microcornea, imperforated anus with rectovestibular fistula, bilateral clinodactyly of the fifth digits, and bilateral distal and proximal transverse palmar creases running parallel to each other. An echocardiogram showed Tetralogy of Fallot and hypoplasia of the transverse aortic arch. Abdominal ultrasound revealed small kidneys. The electroencephalogram showed diffuse cerebral dysfunction. Head ultrasound indicated absence of the septum pellucidum. Additional complications included pneumothorax, metabolic disturbances, sepsis, and persistent thrombocytopenia. The neonate's condition deteriorated, leading to demise on the seventh day of life. Chromosome analysis confirmed 47,XX,+22. : This case report contributes to the limited literature on complete trisomy 22, highlighting its prognosis, clinical heterogeneity, and management challenges. The constellation of anomalies observed underscores the importance of interdisciplinary collaboration and adaptability in providing optimal care. By better understanding its clinical presentation, we hope to facilitate early recognition, appropriate management, and counseling.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, United States.",
    "Division of Medical Genetics & Metabolism, University of Texas Medical Branch, Galveston, TX, United States.",
    "Department of Pathology and Laboratory Medicine, University of Texas San Antonio, San Antonio, TX, United States."
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Sofia Jares Baglivo"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Megan P Morand"
    },
    {
      "affs": [
        2
      ],
      "name": "Gopalrao V N Velagaleti"
    },
    {
      "affs": [
        0
      ],
      "name": "Sunil K Jain"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Erin Cooney"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/7f3bvceg952za.bib",
  "cited_by": 0,
  "doi": "10.3389/fped.2026.1920011",
  "fulltext_url": "https://europepmc.org/articles/PMC13713506",
  "id": "7f3bvceg952za",
  "issns": [
    "2296-2360"
  ],
  "landing_url": "https://europepmc.org/article/MED/42952796",
  "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": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2739|Down syndrome and intellectual disability research"
    ]
  ],
  "openalex": "W7221820174",
  "pdf_url": "https://europepmc.org/articles/PMC13713506?pdf=render",
  "pmcid": "PMC13713506",
  "pmid": "42952796",
  "published": "2026-10-14",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/7f3bvceg952za.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T00:20:41Z",
      "native_id": "MED:42952796",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42952796"
    },
    {
      "first_seen": "2026-10-31T12:24:02Z",
      "native_id": "PMC13713506",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fped.2026.1920011"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2739|Down syndrome and intellectual disability research",
      "subfield": "epidemiology-public-health"
    }
  ],
  "title": "Liveborn trisomy 22: a case report.",
  "title_text": "Liveborn trisomy 22: a case report.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:21:10Z",
  "url": "https://research.draconitic.com/paper/7f3bvceg952za",
  "venue": "Frontiers in pediatrics",
  "versions": []
}