{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T03:50:40Z","timestamp":1777002640821,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T00:00:00Z","timestamp":1776643200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The complex pathogenetic mechanisms of rare genetic diseases make the diagnostic process highly challenging. Advances in molecular genomic techniques, such as exome sequencing, have improved the identification of copy number variants (CNVs), increasing diagnostic yield.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We report the case of a female patient with global developmental delay, growth alterations, and dysmorphic features. Clinical exome sequencing did not reveal point mutations. CNV analysis from exome data identified a 6\u2009Mb microdeletion in 10p15.3p14, involving the\n                      <jats:italic>ZMYND11<\/jats:italic>\n                      gene, and a 7.6\u2009Mb microduplication in 7p22.3p21.3; both rearrangements were subsequently confirmed by chromosomal microarray analysis. Conventional karyotyping revealed a derivative chromosome 10 [46,XX,der (10)], a finding consistent with the possibility of an unbalanced translocation involving chromosomes 7 and 10. The combined cytogenetic and molecular findings are consistent with the possibility that the duplicated 7p segment is inserted into the short arm of chromosome 10.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>ZMYND11<\/jats:italic>\n                      , a dosage\u2010sensitive gene, has been associated with Cornelia de Lange Syndrome (CdLS)\u2010like phenotypes, and its haploinsufficiency is linked to 10p15.3 microdeletion syndrome. Our patient presented a complex phenotype due to the concurrent 7p duplication and 10p deletion, highlighting the importance of\n                      <jats:italic>ZMYND11<\/jats:italic>\n                      in chromatinopathies. A review of similar cases supports considering\n                      <jats:italic>ZMYND11<\/jats:italic>\n                      in evaluating chromatinopathy\u2010related features. Notably, she also exhibited unique characteristics that have not been previously described in association with either CNV.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Next\u2010generation sequencing, capable of detecting both single nucleotide variants and CNVs, is a critical tool for diagnosing neurodevelopmental disorders and uncovering diverse causative variants. This case emphasizes how NGS facilitates the identification of co\u2010occurring CNVs and expands the phenotypic spectrum associated with chromatinopathies. Detailed characterization of such complex phenotypes using NGS is essential for advancing our understanding of rare genetic conditions and improving diagnostic accuracy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70164","type":"journal-article","created":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T10:51:16Z","timestamp":1776682276000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving\n                    <scp>\n                      <i>ZMYND11<\/i>\n                    <\/scp>\n                    : A Case Report and Literature Review"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5933-3183","authenticated-orcid":false,"given":"Elia Marco Paolo","family":"Minale","sequence":"first","affiliation":[{"name":"Department of Translational Medical Sciences University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Martone","sequence":"additional","affiliation":[{"name":"U.O.C. Medical Genetics, A.O.U. Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Criscuolo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive Sciences and Odontostomatology University of Naples Federico II  Naples Italy"},{"name":"Center for Cognitive Disorders and Dementias\u2014Neurology \u201cFederico II\u201d University Hospital  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Marra","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vito Alessandro","family":"Lasorsa","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale s.r.l.  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Suero","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale s.r.l.  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Capasso","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Immacolata","family":"Andolfo","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Achille","family":"Iolascon","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Russo","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5927-1185","authenticated-orcid":false,"given":"Michele","family":"Pinelli","sequence":"additional","affiliation":[{"name":"U.O.C. 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