{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T04:44:26Z","timestamp":1763959466798},"reference-count":18,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T00:00:00Z","timestamp":1213056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We identified a duplication of 22q13.1\u2010q13.2 in a 10\u2010year\u2010old girl and demonstrated that this duplication was the recombinant product of a maternal intrachromosomal insertion. Phenotypic characteristics included prominent forehead, small low\u2010set ears, hypertelorism, epicanthal folds, small palpebral fissures, short philtrum, and syndactyly. MRI of the brain revealed high signal abnormalities in the periventricular white matter, a hypoplastic corpus callosum, under\u2010rotated hippocampus on the left and atrophic hippocampus on the right. Since age 5, the child's behavior has shown cyclic maniacal episodes with severely disorganized mood and behavior. Psychiatric and cognitive assessment led to a diagnosis of bipolar disorder not otherwise specified, manic episodes, attention deficit hyperactivity disorder and moderate mental retardation. Array\u2010CGH revealed an interstitial duplication of 6.9 Mb at chromosome 22q: dup(22)(q13.1q13.2). FISH using BAC clones confirmed the array\u2010CGH results and demonstrated that the duplication was inverted. G\u2010banding analysis in the proposita's mother revealed a banding pattern suggestive of an intrachromosomal insertion, as demonstrated by dual\u2010color FISH with BACs that were duplicated in the proposita and multicolor\u2010banding (MCB) based on microdissection derived region\u2010specific libraries for chromosome 22. Our findings suggest that in both seemingly de novo deletions and duplications, the parent transmitting the imbalance should be investigated for possible balanced rearrangements. This report reinforces previous evidence that chromosome imbalances, and thus gene dosage effects, may be at the basis of some psychiatric disorders. Stringent correlations between submicroscopic imbalances, specific behavioral phenotypes and brain imaging will possibly help in dissecting complex behavioral traits. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32326","type":"journal-article","created":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T20:51:12Z","timestamp":1213131072000},"page":"1754-1760","source":"Crossref","is-referenced-by-count":20,"title":["A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Tiziano","family":"Pramparo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"de 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