{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:42:20Z","timestamp":1789425740454,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4236,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a spectrum of defects that were found in an 18\u2010year\u2010old girl who presented for investigation of primary amenorrhea. The patient was found to have Duane anomaly, left renal agenesis, absent uterus, bilateral sen\u2010sorineural deafness, and bilateral preauricular skin tags and sinuses. Investigation of her family showed that her brother also had Duane anomaly, right renal agenesis, sensorineural deafness, and preauricular skin tags. Cytogenetic analysis, including in situ hybridisation of peripheral blood lymphocytes, demonstrated a supernumerary bisatellited marker chromosome derived from the region of chromosome 22pter\u2010q11 in the affected individuals. Our findings indicate that a gene or genes located in the region of chromosome 22pter\u2010q11 may be associated with the Duane anomaly and the development of the urogenital tract. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470623","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:41:37Z","timestamp":1118508097000},"page":"925-930","source":"Crossref","is-referenced-by-count":44,"title":["Association of familial duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22"],"prefix":"10.1002","volume":"47","author":[{"given":"Paul","family":"Cullen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine S.","family":"Rodgers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David 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