{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970634},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5362,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rearrangements of the proximal long arm of chromosome 15 have been found in most patients with the Prader\u2010Willi syndrome (PWS) and in some with Angelman syndrome. We present an individual with syndromic obesity and her normal mother, who both have an abnormal chromosome 15. The proposita is a 26\u2010year\u2010old woman with marked obesity, acanthosis nigricans, short fingers, and severe cone degeneration of the retina. She has high plasma insulin levels, hypothyroidism, and an empty sella on CT scan. High\u2010resolution chromosome banding demonstrated an increase in band 15q12. Further analysis showed the same abnormal 15 in her normal mother but not in her normal sister. This case and recent reports in the literature indicate that duplications of chromosome 15q in the PWS region may be associated with a syndrome of obesity, acanthosis nigricans, empty sella, and rodcore dystrophy as well as with a normal phenotype. Whether normal individuals with such a duplication carry increased risk of having offspring with an obesity syndrome is yet to be determined.<\/jats:p>","DOI":"10.1002\/ajmg.1320370203","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:12:14Z","timestamp":1118545934000},"page":"173-177","source":"Crossref","is-referenced-by-count":11,"title":["Rearrangement of chromosome 15 in the region q11.2\u2192q12 in an individual with obesity syndrome and her normal mother"],"prefix":"10.1002","volume":"37","author":[{"given":"M.","family":"Shohat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Shohat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Mohandas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Heckenlively","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. E.","family":"Magenis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. B.","family":"Davidson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. R.","family":"Korenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"A114","article-title":"Familial duplication of proximal 15q in a Prader\u2010Willi individual and her normal father","volume":"41","author":"Berry R","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02814.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170211"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01075.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444648"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00292373"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02002.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1981.03930020859009"},{"key":"e_1_2_1_10_1","unstructured":"HeckenlivelyJR(1989) Studies in RP cone\u2010rod degeneration.Trans Am Ophthalmol Soc(in press)."},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130412"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280402"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198102053040604"},{"key":"e_1_2_1_14_1","first-page":"278","article-title":"Chromosome 15 abnormalities and the Prader\u2010Willi syndrome: A follow\u2010up report of 40 cases","volume":"34","author":"Ledbetter DH","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","first-page":"77","article-title":"Prader\u2010Willi Ahnliches Syndrome","volume":"44","author":"Morgenstern H","year":"1969","journal-title":"Z Haut Geschlechtskr"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280403"},{"key":"e_1_2_1_17_1","first-page":"465","article-title":"Acanthosis nigricans in association with various genodermatoses","volume":"48","author":"Reed WB","year":"1968","journal-title":"Acta Derm Venereol (Stockh)"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80182-7"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200208"},{"key":"e_1_2_1_20_1","first-page":"A84","article-title":"Deletion of chromosome 15 in the region q11. 2\u2010q13 is associated with a wide spectrum of obesity syndromes","volume":"41","author":"Shohat M","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","first-page":"A133","article-title":"Familial duplications of proximal 15q in normal individuals","volume":"39","author":"Stallard R","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1111\/j.1399-0004.1984.tb00791.x","article-title":"Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader\u2010Willi syndrome","volume":"26","author":"Veenema HG","year":"1984","journal-title":"Clin Genet"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320370203","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320370203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T15:54:06Z","timestamp":1697990046000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320370203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,10]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1990,10]]}},"alternative-id":["10.1002\/ajmg.1320370203"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320370203","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,10]]}}}