{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T15:35:17Z","timestamp":1772033717501,"version":"3.50.1"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To determine the cause of marked hypotonia and neonatal encephalopathy, mild anemia and thrombocytopenia, and nonspecific facial dysmorphism in a neonate after extensive neurological and biochemical evaluations, and karyotyping failed to establish the etiology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole exome sequencing (WES), single-nucleotide polymorphisms chromosomal microarray (SNPs CMA), and fluorescence in-situ hybridization (FISH) analysis were performed in the patient and the parents.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES did not show a candidate gene\/diagnosis. Trio-CMA and FISH confirmed a\n                      <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                      8.9\u2009Mb duplication of 11p15.4p15.5 and a 6.4\u2009Mb deletion of 11q24.3q25 in the child, and that the duplicated 11p was of paternal origin, based on the SNPs analysis. On long-term follow-up, encephalopathy improved gradually, thrombocytopenia resolved, facial puffiness persisted, and developmental delay remained. The present patient represents the first case of\n                      <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                      11p duplication with 11q deletion and severe neonatal encephalopathy. The\n                      <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                      chromosomal rearrangement could still have resulted from nonallelic homologous recombination, triggered by low-copy repeats (LCRs) at distal 11p and 11q during paternal meiosis, despite the lower LCR density. Alternatively, it may represent a random event, as it does not involve the recurrent deletion\/duplication typically observed in regions with dense LCRs.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/mcd.0000000000000550","type":"journal-article","created":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T13:02:29Z","timestamp":1770382949000},"page":"63-70","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["A case with a de novo chromosome 8.9\u2009Mb 11pter duplication and 6.4\u2009Mb 11qter deletion derived from a father with a normal karyotype"],"prefix":"10.1097","volume":"35","author":[{"given":"Pattima","family":"Pakhathirathien","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok"},{"name":"Division of Neonatology, Department of Pediatrics, Faculty of 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