{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T22:53:45Z","timestamp":1779144825727,"version":"3.51.4"},"reference-count":56,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T00:00:00Z","timestamp":1501632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007482","name":"Arizona State University","doi-asserted-by":"publisher","award":["New Faculty Startup Fund"],"award-info":[{"award-number":["New Faculty Startup Fund"]}],"id":[{"id":"10.13039\/100007482","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3\u2010qter deletion, 11.1\u2009Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403\u2009kb long, the smallest 6q25 deletion reported to date. Both children have hypotonia, motor speech disorders, and expressive language delays. Patient 1's speech was characterized by childhood apraxia of speech (CAS) and dysarthria. Other findings include developmental delay, ataxic cerebral palsy, optic nerve dysplagia, and atypical brain morphologies regarding the corpus callosum and gyration patterns, a clinical profile that closely matches a previously reported case with a nearly identical deletion. Patient 2 had speech characterized by CAS and typical nonverbal processing abilities. His father, a carrier, had typical speech and language but showed difficulties with complex motor speech and hand motor tasks, similar to other adults with residual signs of CAS. The small deletion in this family contains the <jats:italic>IGF2R\u2010AIRN\u2010SLC22A2\u2010SLC22A3<\/jats:italic> gene cluster, which is associated with imprinting and maternal\u2010specific expression of Igf2R, Slc22a2, and Slc22a3 in mice, whereas imprinting in humans is a polymorphic trait. The shared phenotypes in the two patients might be associated with the deletion of the gene cluster.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38385","type":"journal-article","created":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T12:56:43Z","timestamp":1501678603000},"page":"2659-2669","source":"Crossref","is-referenced-by-count":27,"title":["Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9083-8522","authenticated-orcid":false,"given":"Beate","family":"Peter","sequence":"first","affiliation":[{"name":"Arizona State University Tempe Arizona"},{"name":"Saint Louis University Saint Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope","family":"Lancaster","sequence":"additional","affiliation":[{"name":"Arizona State University Tempe 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