{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:06:50Z","timestamp":1761102410226},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:p>Deletion of the 1q43q44 chromosomal region has been related to a clinical syndrome characterized by neurodevelopmental delay, intellectual disability, microcephaly, congenital abnormality of the corpus callosum, and epilepsy and dysmorphic features. A wide variability of the clinical features have been linked to the contiguous deleted genes and incomplete penetrance has been observed too. Here, we report a 4-years-old boy with microcephaly, neurodevelopmental delay, and cardiac atrial septal defect, who had a de-novo 117\u2009Kb 1q43-q44 microdeletion. The deleted chromosomal region encompassed the two genes <jats:italic toggle=\"yes\">SDCCAG8<\/jats:italic> and <jats:italic toggle=\"yes\">AKT3.<\/jats:italic> The characteristics of the deletion and the clinical condition of the patient suggest a pathogenic role of the 1q43-q44 deletion, supporting a pivotal role of <jats:italic toggle=\"yes\">AKT3<\/jats:italic> gene in the expression of the clinical phenotype.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000313","type":"journal-article","created":{"date-parts":[[2020,1,13]],"date-time":"2020-01-13T10:42:48Z","timestamp":1578912168000},"page":"97-100","source":"Crossref","is-referenced-by-count":2,"title":["Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion"],"prefix":"10.1097","volume":"29","author":[{"given":"Alessandra","family":"Pelle","sequence":"first","affiliation":[{"name":"Department of Clinical and Biological Sciences, University of Torino, AOU Citt\u00e0 della salute e della scienza di Torino, Torino"},{"name":"Pediatric Unit"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piergiorgio","family":"Modena","sequence":"additional","affiliation":[{"name":"SOS-ID Laboratory of Medical Genetics, A.S.S.T. Lariana Sant\u2019Anna Hospital, San Fermo della Battaglia, Como"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cavallini","sequence":"additional","affiliation":[{"name":"Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Pediatric Unit"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s00439-011-1073-y","article-title":"High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.","volume":"131","author":"Ballif","year":"2012","journal-title":"Hum 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corpus callosal abnormalities in chromosome 1q43-q44.","volume":"20","author":"Nagamani","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"R15-20230913","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.neuron.2012.03.010","article-title":"Somatic activation of AKT3 causes hemispheric developmental brain malformations.","volume":"74","author":"Poduri","year":"2012","journal-title":"Neuron"},{"key":"R16-20230913","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30142","article-title":"Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.","volume":"128A","author":"Roberts","year":"2004","journal-title":"Am J Med Genet A"},{"key":"R17-20230913","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/ajmg.a.30695","article-title":"Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific 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