{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:58:40Z","timestamp":1789955920868,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T00:00:00Z","timestamp":1435104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      The Prader\u2013Willi syndrome (PWS) is caused by lack of expression of paternal allele of the 15q11.2\u2010q13 region, due to deletions at paternal 15q11.2\u2010q13 (&lt;70%), maternal uniparental disomy of chromosome 15 (mat\u2010UPD 15) (30%) or imprinting defects (1%). Hyperphagia, intellectual disabilities\/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS. Methylation sensitive PCR (MS\u2010PCR) of the\n                      <jats:italic>SNRPN<\/jats:italic>\n                      locus, which assesses the presence of both the unmethylated (paternal) and the methylated (maternal) allele of 15q11.2\u2010q13, is considered a sensitive reference technique for PWS diagnosis regardless of genetic subtype. We describe a 17\u2010year\u2010old girl with severe obesity, short stature, and intellectual disability, without hypogonadism and history of neonatal hypotonia, who was suspected to have an incomplete PWS. The MS\u2010PCR showed a normal pattern with similar maternal and paternal electrophoretic bands. Afterwards, a SNP array showed the presence of iso\u2010UPD 15, that is, UPD15 with two copies of the same chromosome 15, in about 50% of cells, suggesting a diagnosis of partial PWS due to mosaic maternal iso\u2010UPD15 arisen as rescue of a post\u2010fertilization error. A quantitative methylation analysis confirmed the presence of mosaic UPD15 in about 50% of cells. We propose that complete clinical criteria for PWS and MS\u2010PCR should not be considered sensitive in suspecting and diagnosing partial PWS due to mosaic UPD15. In contrast, clinical suspicion based on less restrictive criteria followed by SNP array is a more powerful approach to diagnose atypical PWS due to UPD15 mosaicism. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37222","type":"journal-article","created":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T08:54:45Z","timestamp":1435136085000},"page":"2720-2726","source":"Crossref","is-referenced-by-count":14,"title":["A girl with incomplete Prader\u2013Willi syndrome and negative MS\u2010PCR, found to have mosaic maternal UPD\u201015 at SNP array"],"prefix":"10.1002","volume":"167","author":[{"given":"Anita","family":"Morandi","sequence":"first","affiliation":[{"name":"Pediatric Diabetes and Metabolic Disorders Unit, University Hospital of Verona Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Bonnefond","sequence":"additional","affiliation":[{"name":"CNRS UMR 8199 Pasteur Institute of Lille Lille France"},{"name":"Lille 2 University Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Lobbens","sequence":"additional","affiliation":[{"name":"CNRS UMR 8199 Pasteur Institute of Lille Lille France"},{"name":"Lille 2 University Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Carotenuto","sequence":"additional","affiliation":[{"name":"Clinic of Child and Adolescent Neuropsychiatry Second University of Naples Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele Miraglia","family":"del Giudice","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Second University of Naples Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Froguel","sequence":"additional","affiliation":[{"name":"CNRS UMR 8199 Pasteur Institute of Lille Lille France"},{"name":"Genetic of Common Disease Imperial College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Maffeis","sequence":"additional","affiliation":[{"name":"Pediatric Diabetes and Metabolic Disorders Unit, University Hospital of Verona Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.103"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.59"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq003"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.4.318"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0649"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.5.e92"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.91.2.398"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg291"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1002\/ajmg.a.35625","article-title":"Mosaic 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