{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:04:35Z","timestamp":1791295475103,"version":"4.1.0"},"reference-count":30,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,6,1]]},"abstract":"<jats:p>A 7-year-old white girl presented with left hemiparesis and ischemic stroke secondary to moyamoya syndrome, a progressive cerebrovascular occlusive disorder of uncertain but likely multifactorial etiology. Past medical history revealed hearing loss and developmental delay\/intellectual disability. Routine karyotype demonstrated extra chromosomal material on 6p. Single nucleotide polymorphism microarray revealed a previously unreported complex de novo genetic rearrangement involving subtelomeric segments on chromosomes 6p and 12q. The duplicated\/deleted regions included several known OMIM-annotated genes. This novel phenotype and genotype provides information about a possible association of genomic copy number variation and moyamoya syndrome. Dosage-sensitive genes in the deleted and duplicated segments may be involved in aberrant vascular proliferation. Our case also emphasizes the importance of comprehensive evaluation of both developmental delay and congenital anomalies such as moyamoya.<\/jats:p>","DOI":"10.1542\/peds.2012-0749","type":"journal-article","created":{"date-parts":[[2013,5,28]],"date-time":"2013-05-28T00:21:22Z","timestamp":1369700482000},"page":"e1996-e2001","source":"Crossref","is-referenced-by-count":11,"title":["Complex Chromosome Rearrangement of 6p25.3-&amp;gt;p23 and 12q24.32-&amp;gt;qter in a Child With Moyamoya"],"prefix":"10.1542","volume":"131","author":[{"given":"Rebecca E.","family":"Rosenberg","sequence":"first","affiliation":[{"name":"Departments of Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maureen","family":"Egan","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaun","family":"Rodgers","sequence":"additional","affiliation":[{"name":"Neurosurgery, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Harter","sequence":"additional","affiliation":[{"name":"Neurosurgery, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel D.","family":"Burnside","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America, Center for Molecular Biology and Pathology, Department of Cytogenetics, Research Triangle Park, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Milla","sequence":"additional","affiliation":[{"name":"Radiology, New York University School of Medicine and New York University Langone Medical Center, New York, New York; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Pappas","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2013,6,1]]},"reference":[{"issue":"9","key":"2021120900422093500_B1","doi-asserted-by":"crossref","first-page":"2644","DOI":"10.1161\/STROKEAHA.108.189696","article-title":"Management of stroke in infants and children: A scientific statement from a special writing group of the american heart association stroke council and the council on cardiovascular disease in the young.","volume":"39","author":"Roach","year":"2008","journal-title":"Stroke"},{"issue":"3","key":"2021120900422093500_B2","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.nec.2010.03.007","article-title":"Moyamoya: epidemiology, presentation, and diagnosis.","volume":"21","author":"Smith","year":"2010","journal-title":"Neurosurg Clin N Am"},{"issue":"10","key":"2021120900422093500_B3","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1007\/s00381-010-1208-9","article-title":"Pediatric stroke: the importance of cerebral arteriopathy and vascular malformations.","volume":"26","author":"Beslow","year":"2010","journal-title":"Childs Nerv Syst"},{"issue":"4","key":"2021120900422093500_B4","doi-asserted-by":"crossref","first-page":"E4","DOI":"10.3171\/2000.01.FOCUS08306","article-title":"Understanding and treating moyamoya disease in children.","volume":"26","author":"Smith","year":"2009","journal-title":"Neurosurg Focus"},{"issue":"10","key":"2021120900422093500_B5","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1007\/s00381-010-1209-8","article-title":"Moyamoya disease in children.","volume":"26","author":"Ibrahimi","year":"2010","journal-title":"Childs Nerv Syst"},{"issue":"3","key":"2021120900422093500_B6","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1001\/archneur.1969.00480090076012","article-title":"Cerebrovascular \u201cmoyamoya\u201d disease. 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