{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:54:36Z","timestamp":1759730076342},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4222,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 37\u2010week gestation female infant who was born with a terminal 2q deletion. Both of her parents had normal chromosomes. This infant had multiple anomalies, including hypertelorism, short palpebral fissures, microphthalmia, cleft lip\/cleft palate, and abnormal ears. Autopsy documented Dandy\u2010Walker malformation with severe hydrocephalus, aortopulmonary window, secundum atrial septal defect, duodenal atresia, incomplete rotation of the bowel, gonadal dysgenesis, uterus didelphys, and musculoskeletal defects. Compared with the other 6 children with 2q terminal deletion documented in the literature, this patient is the most severely affected. This patient is also the only one documented to have died and undergone autopsy examination. The findings in this case provide more data for the eventual description of a \u201cterminal 2q deletion syndrome\u201d and suggest that some abnormalities, such as gonadal dysgenesis, may be present in living children with this chromosome abnormality. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470734","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:12:04Z","timestamp":1118509924000},"page":"1099-1103","source":"Crossref","is-referenced-by-count":14,"title":["Autopsy findings in a severely affected infant with a 2q terminal deletion"],"prefix":"10.1002","volume":"47","author":[{"given":"Brenda L.","family":"Waters","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth F.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela C.","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troy","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/355637a0"},{"key":"e_1_2_1_3_1","first-page":"1","article-title":"Human homeo box\u2010containing genes located at chromosome regions 2q31\u20132q37 and 12q12\u201312q13","volume":"41","author":"Cannizzaro LA","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","first-page":"A301","article-title":"An infant with karyotype 46, XX, del(2)(q37)","volume":"51","author":"Coldwell JG","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201540"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03047.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320315"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440424"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00401.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(82)80292-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.2.147"},{"key":"e_1_2_1_12_1","first-page":"A310","article-title":"Deletion of 2q37\u2014a new syndrome?","volume":"51","author":"Stein CK","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/355635a0"},{"key":"e_1_2_1_14_1","first-page":"445","article-title":"Deletion 2q syndrome? (letter)","volume":"29","author":"Wassman ER","year":"1988","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.3.199"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470734","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T06:16:54Z","timestamp":1698214614000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,11,15]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1993,11,15]]}},"alternative-id":["10.1002\/ajmg.1320470734"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470734","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,11,15]]}}}