{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T00:10:04Z","timestamp":1792714204179,"version":"4.5.0"},"reference-count":56,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2010,6,23]],"date-time":"2010-06-23T00:00:00Z","timestamp":1277251200000},"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":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 15q11\u2010q13 PWS\/AS critical region involves genes that are characterized by genomic imprinting. Multiple repeat elements within the region mediate rearrangements, including interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chromosomes, as well as the deletions that cause Prader\u2013Willi syndrome (PWS) and Angelman syndrome (AS). Recently, duplications of maternal origin concerning the same critical region have been implicated in autism spectrum disorders (ASD). We present a 6\u2010month\u2010old girl carrying a de novo duplication of maternal origin of the 15q11.2\u2010q14 PWS\/AS region (17.73\u2009Mb in size) [46,XX,dup(15)(q11.2\u2010q14)] detected with a high\u2010resolution microarray\u2010based comparative genomic hybridization (array\u2010CGH). The patient is characterized by severe hypotonia, obesity, microstomia, long eyelashes, hirsutism, microretrognathia, short nose, severe psychomotor retardation, and multiple episodes of drug\u2010resistant epileptic seizures, while her brain magnetic resonance imaging (MRI) documented partial corpus callosum dysplasia. In our patient the duplicated region is quite large extending beyond the Prader\u2013Willi\u2013Angelman critical region (PWACR), containing a number of genes that have been shown to be involved in ASD, exhibiting a severe phenotype, beyond the typical PWS\/AS clinical manifestations. Reporting of similar well\u2010characterized clinical cases with clearly delineated breakpoints of the duplicated region will clarify the contribution of specific genes to the phenotype. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33447","type":"journal-article","created":{"date-parts":[[2010,6,23]],"date-time":"2010-06-23T14:29:08Z","timestamp":1277303348000},"page":"1925-1932","source":"Crossref","is-referenced-by-count":34,"title":["De novo interstitial duplication of the 15q11.2\u2010q14 PWS\/AS region of maternal origin: Clinical description, array CGH analysis, and review of the 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