{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:54:26Z","timestamp":1747191266273,"version":"3.40.5"},"reference-count":26,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T00:00:00Z","timestamp":1706572800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2024,1,30]]},"abstract":"<jats:p>Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in children presenting with a wide range of birth defects. We present a case of a female child born with multiple major congenital abnormalities including severe microcephaly, ocular dysgenesis, heart defect, and imperforate anus. Chromosomal microarray and mate pair sequencing identified a complex chromosomal rearrangement involving the terminal end of the long arm of chromosome 2, with two duplications (located at 2p25.3-p25.1 and 2q35-q37.2 regions) and two deletions (located at 2q37.2-q37.3 and 2q37.3 regions) along with structural changes including inverted segments. A review of the literature for complex rearrangements on chromosome 2 revealed overlapping features; however, our patient had a significantly more severe phenotype which resulted in early death at the age of 2\u2009years. Breakpoints analysis did not reveal the involvement of any candidate genes. We concluded that the complexity of the genomic rearrangement and the combined dosage\/structural effect of these copy number variants are likely explanations for the severe presentation in our patient.<\/jats:p>","DOI":"10.1155\/2024\/6319030","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T19:35:11Z","timestamp":1706643311000},"page":"1-6","source":"Crossref","is-referenced-by-count":0,"title":["Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation"],"prefix":"10.1155","volume":"2024","author":[{"given":"Afia","family":"Hasnain","sequence":"first","affiliation":[{"name":"Genomics Laboratory, Diagnostic Services, Shared Health, Winnipeg, MB, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura L.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 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