{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:15:50Z","timestamp":1763640950263},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":6393,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 16\u2010year\u2010old boy with Prader\u2010Labhart\u2010Wi11i syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early\u2010onset obesity with insulin\u2010dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90.<\/jats:p><jats:p>Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter \u2192 15ql2); 46,X, t(Y;15), dic(15)(15pter \u2192 15ql2::15ql2 \u2192 15pter) and 47,X,t(Y;15), dic(15), dic(15). The dic(15) was bisatel1ited, NOR\u2010positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter \u2192 15q 12) and partial pentasomy 15 (15pter \u2192 15ql2), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures.<\/jats:p><jats:p>The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS; as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320280404","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:52:33Z","timestamp":1118544753000},"page":"803-811","source":"Crossref","is-referenced-by-count":19,"title":["Unique mosaicism in Prader\u2010Labhart\u2010Willi syndrome\u2014a contiguous gene or aneuploidy syndrome?"],"prefix":"10.1002","volume":"28","author":[{"given":"BG","family":"Kousseff","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Diamond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Essig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Tedesco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.56.11.882"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198303000-00001"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.147.4.673"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170211"},{"key":"e_1_2_1_6_1","first-page":"270","volume-title":"Clinical Atlas of Human Chromosomes","author":"deGrouchy J","year":"1984"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.12.4408"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01876751"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170315"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130412"},{"key":"e_1_2_1_11_1","volume-title":"Dysmorphology","author":"Kousseff BG","year":"1982"},{"issue":"3","key":"e_1_2_1_11_2","first-page":"301","volume":"18","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_12_1","first-page":"452","article-title":"A blind prometaphase study of Prader\u2010Willi syndrome: Frequency and consistency in interpretation of del 15q","volume":"39","author":"Labidi F","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_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":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281681"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287636"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295524"},{"key":"e_1_2_1_17_1","first-page":"1260","article-title":"Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatoniertigem Zustand im Neugeborenenalter","volume":"86","author":"Prader A","year":"1956","journal-title":"Schweiz Med Wschr"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80377-8"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200208"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00603.x"},{"key":"e_1_2_1_21_1","first-page":"294","article-title":"The origin and behavior of two isodicentric bisatellited chromosomes","volume":"29","author":"Van Dyke DL","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293289"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00399391"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320280404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320280404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T13:23:49Z","timestamp":1697894629000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320280404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,12]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1987,12]]}},"alternative-id":["10.1002\/ajmg.1320280404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320280404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,12]]}}}