{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T20:19:38Z","timestamp":1792700378408,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,30]],"date-time":"2017-03-30T00:00:00Z","timestamp":1490832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:p>Prader\u2010Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader\u2010Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the <jats:italic>SNORD116<\/jats:italic> cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion usually is not detected by the classic DNA methylation analysis test. We present the case of a male patient with a mild Prader\u2010Willi phenotype and a small deletion including <jats:italic>SNORD116<\/jats:italic>, diagnosed by methylation\u2010sensitive multiplex ligation\u2010dependent probe amplification (MLPA. The patient showed neonatal hypotonia, hyperphagia, obesity, central hypogonadism, hypothyroidism, strabismus. Stature and intellectual development are within the normal range. The presence of macrocephaly, observed in other cases of <jats:italic>SNORD116<\/jats:italic> deletions as well, is uncommon for the classic phenotype of the syndrome.<\/jats:p>","DOI":"10.1111\/cge.13005","type":"journal-article","created":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T07:02:42Z","timestamp":1488870162000},"page":"440-443","source":"Crossref","is-referenced-by-count":39,"title":["<i>SNORD116<\/i> deletions cause Prader\u2010Willi syndrome with a mild phenotype and macrocephaly"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4217-184X","authenticated-orcid":false,"given":"P.","family":"Fontana","sequence":"first","affiliation":[{"name":"U.O.S.D. Genetica Medica A.O.R.N. Gaetano Rummo  Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Grasso","sequence":"additional","affiliation":[{"name":"S.C. 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