{"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":1761717970133},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":7431,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A deletion of the long arm of chromosome 15 (usually involving bands 15q 11\u2010q12) has been seen in approximately 50% of Prader\u2010Willi syndrome (PWS) patients [Ledbetter et al, 1982]. However, 14 patients with non\u2010PWS (or atypical PWS) phenotype with 15q deletion indicate great clinical variability. A deletion was found in a propositus with a de novo translocation [45, XY,\u221215, \u221222, +rec(15;22)(22pter \u2192 22q13.2::15q14 \u2192 15qter)], who had anomalies not normally observed in PWS patients. Activities of several enzymes mapped to the involved chromosomes were studied in the patient and control individuals. A 50% decrease in the level of arylsulfatase\u2010A confirmed a small deletion in 22q(22q13.2 \u2192 qter), and additional studies localized more precisely the loci for \u03b1\u2010mannosidase (cytoplasmic) and \u03b2\u2010galactosidase.<\/jats:p>","DOI":"10.1002\/ajmg.1320200208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:55:06Z","timestamp":1118519706000},"page":"255-263","source":"Crossref","is-referenced-by-count":48,"title":["Deletions of proximal 15q and non\u2010classical Prader\u2010Willi syndrome phenotypes"],"prefix":"10.1002","volume":"20","author":[{"given":"S.","family":"Schwartz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. R.","family":"Max","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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M.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","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","first-page":"237","article-title":"Prader\u2010Willi syndrome associated with an interstitial deletion of chromosome 15","volume":"151","author":"Bonuccelli CM","year":"1982","journal-title":"John Hopkins Med J"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/BF00273186","article-title":"Identification of a D\/E (15\/18) translocatoin chromosome by quinacrine fluorescence and urea banding techniques","volume":"17","author":"Borgaonkar 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