{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T21:12:07Z","timestamp":1770757927375,"version":"3.50.0"},"reference-count":6,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,5,25]],"date-time":"2012-05-25T00:00:00Z","timestamp":1337904000000},"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":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Interstitial deletions of chromosome bands 9q34.11\u2013q34.13 are rare. We report on a 16\u2010year\u2010old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7\u2009Mb interstitial deletion in 9q34.11\u2013q34.13. The deletion harbors more than 60 genes, including <jats:italic>SPTAN1<\/jats:italic>, <jats:italic>DYT1\/TOR1A<\/jats:italic>, <jats:italic>ABL1<\/jats:italic>, <jats:italic>ASS1<\/jats:italic>, <jats:italic>LAMC3<\/jats:italic>, <jats:italic>POMT1<\/jats:italic>, <jats:italic>DOLK<\/jats:italic>, and <jats:italic>GLE1<\/jats:italic>, mutations in which have previously been associated with monogenic disorders. This is the first patient with a deletion of this size and position in 9q34.11\u2013q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype\u2013phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35398","type":"journal-article","created":{"date-parts":[[2012,5,25]],"date-time":"2012-05-25T16:40:50Z","timestamp":1337964050000},"page":"1709-1712","source":"Crossref","is-referenced-by-count":12,"title":["Interstitial 9q34.11\u2013q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip\/palate"],"prefix":"10.1002","volume":"158A","author":[{"given":"Andreas","family":"Tzschach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Grasshoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Sch\u00e4ferhoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Bonin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Dufke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Haas\u2010Lude","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bevot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,5,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.e6"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.226"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<409::AID-AJMG7>3.0.CO;2-G"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.150"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.013"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308088101"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35398","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35398","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:56:21Z","timestamp":1697615781000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35398"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,25]]},"references-count":6,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1002\/ajmg.a.35398"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35398","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,25]]}}}