{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T07:33:53Z","timestamp":1751528033987},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T00:00:00Z","timestamp":1367280000000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>In this report, we describe a female child with dysmorphic features and developmental delay. Chromosome microarray analysis followed by conventional karyotyping revealed a ring chromosome 9 with a 12\u2009Mb deletion at 9pter\u2010p23 and a 540\u2009kb deletion at 9q34.3\u2010qter. Four percent of the analyzed cells had monosomy 9. The patient has the features of both the Kleefstra syndrome and the chromosome 9p\u2010syndrome, including trigonocephaly, long philtrum, hypertelorism, and retro\u2010\/micronagthia. The deletion of the patient overlaps with several of the proposed critical regions for the 9p deletion syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35901","type":"journal-article","created":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T17:13:57Z","timestamp":1367342037000},"page":"1447-1452","source":"Crossref","is-referenced-by-count":12,"title":["Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature"],"prefix":"10.1002","volume":"161","author":[{"given":"Else la Cour","family":"Sibbesen","sequence":"first","affiliation":[{"name":"Applied Human Molecular Genetics, Kennedy Center Copenhagen University Hospital Rigshospitalet, Glostrup Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathrine","family":"Jespersgaard","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics, Kennedy Center Copenhagen University Hospital Rigshospitalet, Glostrup Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Alosi","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics, Kennedy Center Copenhagen University Hospital Rigshospitalet, Glostrup Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Marie","family":"Bisgaard","sequence":"additional","affiliation":[{"name":"Center for Rett Syndrome, Kennedy Center Copenhagen University Hospital Rigshospitalet, Glostrup Denmark"},{"name":"Departmentof Paediatrics Herlev Hospital Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics, Kennedy Center Copenhagen University Hospital Rigshospitalet, Glostrup Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.70"},{"key":"e_1_2_6_3_1","first-page":"85","article-title":"Phenotypic variability in the chromosome 9 ring","volume":"68","author":"Cavaliere ML","year":"1977","journal-title":"Acta Biomed Ateneo Parmense"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1515"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302606"},{"key":"e_1_2_6_6_1","first-page":"243","article-title":"Ring chromosome 9: Identification of a new case by G and C banding","volume":"25","author":"Dipierri JE","year":"1982","journal-title":"Ann Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31961"},{"key":"e_1_2_6_8_1","first-page":"175","article-title":"A case of annular chromosome 9. 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