{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:10:32Z","timestamp":1792289432243,"version":"4.4.0"},"reference-count":50,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7034,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a clinical and cytogenetic survey of 39 individuals with Prader\u2010Labhart\u2010Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the, deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.<\/jats:p>","DOI":"10.1002\/ajmg.1320230307","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:30Z","timestamp":1118520210000},"page":"793-809","source":"Crossref","is-referenced-by-count":244,"title":["Clinical and cytogenetic survey of 39 individuals with Prader\u2010Labhart\u2010Willi syndrome"],"prefix":"10.1002","volume":"23","author":[{"given":"Merlin G.","family":"Butler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. John","family":"Meaney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine G.","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273267"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-349-05131-1"},{"key":"e_1_2_1_4_1","first-page":"237","article-title":"Prader\u2010Willi syndrome associated with an interstitial deletion of chromosome 15","volume":"15","author":"Bonucelli CM","year":"1982","journal-title":"Johns Hopkins Med J"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198303000-00001"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1963.tb03762.x"},{"key":"e_1_2_1_7_1","unstructured":"ButlerMG(1984):Clinical and cytogenetic survey of the Prader\u2010Willi syndrome. PhD Thesis Indiana University."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01846.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01213.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92745-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01449.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170211"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287054"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01881.x"},{"key":"e_1_2_1_15_1","first-page":"1","article-title":"The Prader\u2010Labhart\u2010Willi syndrome: Review of the literature and the report of nine cases","volume":"186","author":"Dunn HG","year":"1968","journal-title":"Acta Pediatr Scand"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1542\/peds.28.4.578","article-title":"Benign congenital hypotonia with chromosomal anomaly","volume":"28","author":"Dunn HG","year":"1961","journal-title":"Pediatrics"},{"key":"e_1_2_1_17_1","unstructured":"FernhoffPM BrownA BlakeE ElsasLJ(1984):Newborn metabolic screening in Georgia: Five years experience. Paper presented at National Newborn Screening Symposium Orlando Florida February7\u20139 1984."},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1964.tb07208.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131375"},{"key":"e_1_2_1_20_1","first-page":"136","article-title":"Mental retardation associated with \u201cbalanced\u201d chromosome rearrangements","volume":"29","author":"Funderburk SJ","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","volume-title":"Nutrition, Physiology and Obesity","author":"Garn SM","year":"1980"},{"key":"e_1_2_1_22_1","first-page":"23","article-title":"Growth, body composition and development of obese and lean children","volume":"3","author":"Garn SM","year":"1975","journal-title":"Curr Concepts Nutr"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00807.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80297-X"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(72)90019-8"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.2.152"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(82)90358-0"},{"key":"e_1_2_1_28_1","volume-title":"The Prader\u2010Willi Syndrome","author":"Holm VA","year":"1981"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130412"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.42.222.126"},{"key":"e_1_2_1_31_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_32_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198102053040604"},{"key":"e_1_2_1_33_1","first-page":"77A","article-title":"Deletion (15q) as a cause of the Prader\u2010Willi syndrome (PWS)","volume":"32","author":"Ledbetter DH","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00292367"},{"key":"e_1_2_1_35_1","first-page":"5","article-title":"The Prader\u2010Labhart\u2010Willi syndrome: Third recorded case occurring in monozygotic twins","volume":"13","author":"Naselli A","year":"1981","journal-title":"Acta Med Auxol"},{"key":"e_1_2_1_36_1","first-page":"1","volume-title":"Standardization in human cytogenetics","author":"Paris Conference Supplement","year":"1975"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1148\/100.2.369"},{"key":"e_1_2_1_38_1","first-page":"1260","article-title":"Ein syndrom von adipositas, klienwuchs, Kryptorchismus und Oligophrenie nach myatonieartigen Zustand im Neugeborenenalter","volume":"86","author":"Prader A","year":"1956","journal-title":"Schweiz Med Wochenschr"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02001.x"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(80)90056-4"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569213"},{"key":"e_1_2_1_42_1","volume-title":"Recognizable Patterns of Human Malformations","author":"Smith DW","year":"1976"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01310.x"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00104.x"},{"key":"e_1_2_1_45_1","first-page":"127A","article-title":"Problems in the detection of 15q deletion in patients with Prader\u2010Willi syndrome","volume":"33","author":"Wyandt HE","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131634"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"},{"key":"e_1_2_1_48_1","volume-title":"The HHHO or Prader\u2010Willi syndrome","author":"Zellweger H","year":"1969"},{"issue":"2","key":"e_1_2_1_48_2","first-page":"15","author":"The National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_49_1","first-page":"588","article-title":"Syndrome of hypotonia\u2010hypomentia\u2010hypogonadism\u2010obesity (HHHO) or Prader\u2010Willi syndrome","volume":"115","author":"Zellweger H","year":"1968","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_50_1","first-page":"3338","article-title":"The Prader\u2010Willi syndrome","volume":"37","author":"Zellweger H","year":"1979","journal-title":"Med Hygiene"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320230307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320230307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T15:59:46Z","timestamp":1697817586000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320230307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,3]]},"references-count":50,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,3]]}},"alternative-id":["10.1002\/ajmg.1320230307"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320230307","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,3]]}}}