{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T05:18:37Z","timestamp":1788153517160,"version":"build-2803163510"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>22q11.2 deletion syndrome (22q11.2DS) may be overlooked in adults when neurological care is prompted by pyramidal, gait, or parkinsonism-mimicking presentations rather than by congenital, developmental, psychiatric, or systemic features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We retrospectively reviewed the clinical, imaging, and genetic findings of two unrelated adults whose neurological presentations led to whole-exome sequencing-based copy-number variant (CNV) detection of 22q11.21 deletions. Orthogonal confirmation by chromosomal microarray, multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), fluorescence\n                      <jats:italic>in situ<\/jats:italic>\n                      hybridization (FISH), or copy-number variation sequencing (CNV-seq) was not available; therefore, the reported deletion sizes and coordinates represent WES-derived estimates.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Patient 1 presented with progressive lower-limb weakness, a spastic unsteady gait, pyramidal signs, dysarthria, and ataxic features, together with learning difficulty, palatal abnormalities, and a maternal history of similar gait disturbance and suspected epilepsy; analysis identified a 2.67-Mb deletion at 22q11.21. Patient 2 presented with progressive limb weakness, dysarthria, parkinsonism-mimicking rigidity and slowness, bilateral basal ganglia calcification, abnormal globus pallidus MRI signals, developmental delay, psychiatric symptoms, craniofacial features, and a maternal history of similar motor and cognitive impairment; analysis identified a 2.52-Mb deletion at 22q11.21.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These cases highlight diagnostic pitfalls and syndromic clues rather than establish a new mechanism. In adult neurology practice, developmental history, palatal or craniofacial abnormalities, basal ganglia calcification, psychiatric symptoms, and family history should prompt consideration of 22q11.2DS and genetic testing that is sensitive to copy-number variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fneur.2026.1933196","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T04:28:54Z","timestamp":1788150534000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Adult-recognized 22q11.2 deletion syndrome in adult neurology practice: a brief report of two diagnostic pitfalls"],"prefix":"10.3389","volume":"17","author":[{"given":"Daren","family":"Wu","sequence":"first","affiliation":[{"name":"Anhui University of Traditional Chinese Medicine","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuemiao","family":"Wang","sequence":"additional","affiliation":[{"name":"Anhui University of Traditional Chinese Medicine","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiawei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1002\/mdc3.70459","article-title":"Movement disorders associated with 22q11.2 microdeletion: a scoping review","volume":"13","author":"Reyes","year":"2026","journal-title":"Mov Disord Clin Pract"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"e70256","DOI":"10.1111\/ene.70256","article-title":"Dissecting the phenotypic spectrum and complexity of movement disorders in 22q11.2 deletion syndrome","volume":"32","author":"Reyes","year":"2025","journal-title":"Eur J Neurol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1002\/mdc3.14354","article-title":"Prevalence of Parkinson's disease in 22q11.2 deletion syndrome: a multicenter study","volume":"12","author":"von 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