{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081833,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T00:00:00Z","timestamp":1744070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Prader\u2010Willi syndrome (PWS) is an uncommon genetic disorder caused by the lack of expression of a cluster of genes located in the 15q11.2q13 region, which are normally expressed only from the paternally\u2010inherited allele due to genomic imprinting. PWS can result from a deletion of the 15q11.2q13 region on the paternally\u2010inherited chromosome 15, maternal uniparental disomy, or imprinting defects. We report a patient with an atypical deletion within 15q11.2q13 and a PWS phenotype, including hypotonia, feeding difficulties, short stature, developmental delay, and dysmorphisms. She has a deletion from\n                    <jats:italic>TUBGCP5<\/jats:italic>\n                    to\n                    <jats:italic>SNURF\u2010SNRPN<\/jats:italic>\n                    (including the imprinting center) but not the\n                    <jats:italic>SNORD<\/jats:italic>\n                    region. These types of reports are crucial for further supporting the established role of the imprinting center in the pathophysiology and critical region of PWS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14750","type":"journal-article","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T01:50:48Z","timestamp":1744163448000},"page":"352-362","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Classic Prader\u2010Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the\n                    <scp>\n                      <i>SNORD<\/i>\n                    <\/scp>\n                    Genes"],"prefix":"10.1111","volume":"108","author":[{"given":"Jazm\u00edn Bel\u00e9n","family":"Mart\u00ednez","sequence":"first","affiliation":[{"name":"Department of Medical Genetics National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josefina Mar\u00eda \u00c1lvarez","family":"Arancedo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Solari","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldana","family":"Claps","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Castro","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julieta Eva","family":"Laiseca","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melisa","family":"Taboas","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics National Center for Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105301"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.187"},{"key":"e_1_2_9_4_1","volume-title":"Gene Reviews","author":"Gustafson J. 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