{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T16:59:21Z","timestamp":1778432361528,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,8,7]],"date-time":"2002-08-07T00:00:00Z","timestamp":1028678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 4\u2010year\u2010old boy, a 6\u2010month\u2010old girl, and a 17\u2010week\u2010old fetus all with a chromosomal imbalance derived from a balanced translocation t(13;15)(q34;q26.1) of their father. The boy had a partial trisomy for 15q26.1\u2010qter (46,XY,der(13)t(13;15)(q34;q26.1)) and postnatal overgrowth, as well as craniosynostosis, facial anomalies, and finger joint contractures, while the girl with the same chromosomal aberration did not show overgrowth, although she had similar craniofacial and skeletal abnormalities. The fetus had a partial monosomy for 15q26.1\u2010qter and intrauterine growth retardation (IUGR). Fluorescence in situ hybridization (FISH) analysis with a BAC clone covering the insulin\u2010like growth factor 1 receptor gene (<jats:italic>IGF1R<\/jats:italic>) that is located to 15q25\u2010q26 revealed three copies in the boy, one copy in the fetus, and two copies in their phenotypically normal father. Since deletion of <jats:italic>IGF1R<\/jats:italic>has repeatedly been reported to be associated with IUGR, it is tempting to speculate that the dosage of <jats:italic>IGF1R<\/jats:italic> may have determined growth in these children. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10717","type":"journal-article","created":{"date-parts":[[2002,10,30]],"date-time":"2002-10-30T14:19:03Z","timestamp":1035987543000},"page":"173-177","source":"Crossref","is-referenced-by-count":40,"title":["Postnatal overgrowth by 15q\u2010trisomy and intrauterine growth retardation by 15q\u2010monosomy due to familial translocation t(13;15): Dosage effect of <i>IGF1R<\/i>?"],"prefix":"10.1002","volume":"113","author":[{"given":"Toshiro","family":"Nagai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Shimokawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Harada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Sakazume","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Obata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsunori","family":"Yoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuyuki","family":"Murakami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Murai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoichi","family":"Sakuta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,8,7]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290119"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273663"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/SQB.1986.051.01.099"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.11.684"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1984.tb00097.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03348.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(05)80084-4"},{"key":"e_1_2_4_9_1","first-page":"273","volume-title":"New chromosomal syndrome","author":"Niebuhr E","year":"1977"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380117"},{"key":"e_1_2_4_11_1","first-page":"444","article-title":"Distal 15q trisomy: phenotypic comparison of nine cases in an extended family","volume":"36","author":"Schnatterly PS","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199304000-00002"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.3.233"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<391::AID-AJMG4>3.0.CO;2-O"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10717","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10717","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T18:40:00Z","timestamp":1696963200000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8,7]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,11,22]]}},"alternative-id":["10.1002\/ajmg.10717"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10717","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8,7]]}}}