{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:08:44Z","timestamp":1761718124262},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T00:00:00Z","timestamp":1263513600000},"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":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have characterized a de novo complex rearrangement of the long arm of chromosome 7 in a female patient with moderate mental retardation (MR), anxiety disorder, and autistic features. G\u2010banding suggested a de novo paracentric inversion 46,XX,inv(7)(q31.3q34). However, SNP\u2010array analysis, showed a \u00b110\u2009Mb, 7q21.11\u2013q21.3 deletion in the paternal chromosome. Subsequent FISH analysis with BAC\/PAC clones in the 7q21\u2013q35 region confirmed this deletion. However, the expected paracentric inversion turned out to be an intra\u2010chromosomal insertion of the 7q31.31\u2013q35 fragment into band 7q21.3, disrupting the predicted gene <jats:italic>C7orf58<\/jats:italic> in band 7q31.31. Seven other patients have been previously reported with a deletion of 7q21.1\u2013q21.3. Although there is an overlap in phenotype between our patient and these patients, none of them has been described with anxiety disorder and\/or autistic features. Therefore we suggest that disruption of the <jats:italic>C7orf58<\/jats:italic> gene might contribute to the anxiety disorder, and autistic features in our patient. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33203","type":"journal-article","created":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T22:31:02Z","timestamp":1263594662000},"page":"427-433","source":"Crossref","is-referenced-by-count":9,"title":["A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features"],"prefix":"10.1002","volume":"152A","author":[{"given":"Johannes G.","family":"Dauwerse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia 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