{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T11:26:22Z","timestamp":1768908382376,"version":"3.49.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,5,27]],"date-time":"2011-05-27T00:00:00Z","timestamp":1306454400000},"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":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a 12\u2010year\u2010old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466\u2009Mb interstitial deletion on 12p11.1\u219212p12.1 a 0.191\u2009Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro\/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of <jats:italic>NRXN1<\/jats:italic>, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34101","type":"journal-article","created":{"date-parts":[[2011,5,27]],"date-time":"2011-05-27T17:45:18Z","timestamp":1306518318000},"page":"1745-1752","source":"Crossref","is-referenced-by-count":16,"title":["A 10.46\u2009Mb 12p11.1\u201312.1 interstitial deletion coincident with a 0.19\u2009Mb <i>NRXN1<\/i> deletion detected by array CGH in a girl with scoliosis and autism"],"prefix":"10.1002","volume":"155","author":[{"given":"Yasemin","family":"Soysal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris","family":"Vermeesch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nooshin Ardeshir","family":"Davani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kuya\u015f","family":"Hekimler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Necat","family":"\u0130mirzal\u0131o\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,27]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"732","article-title":"Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family","volume":"60","author":"Baehring S","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","first-page":"55","article-title":"A new case of partial monosomy of chromosome 12,del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase 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