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However, he had no neonatal hypotonia or feeding problems during infancy. Chromosome analysis showed a normal male karyotype. Further analysis with array\u2010CGH identified a mosaic 847\u2009kb deletion in 15q11\u2010q13, including <jats:italic>SNURF\u2010SNRPN<\/jats:italic>, the snoRNA gene clusters SNORD116 (HBII\u201085), SNORD115, (HBII\u201052), SNORD109 A and B (HBII\u2010438A and B), SNORD64 (HBII\u201013), and <jats:italic>NPAP1<\/jats:italic> (<jats:italic>C15ORF2<\/jats:italic>). MLPA confirmed the deletion and the results were compatible with a paternal origin. Metaphase\u2010FISH verified the mosaicism with the deletion present in 58% of leukocytes analyzed. Three smaller deletions in this region have previously been reported in patients with Prader\u2013Willi syndrome phenotype. All three deletions included SNORD116, but only two encompassed parts of <jats:italic>SNURF\u2010SNRPN<\/jats:italic>, implicating SNORD116 as the major contributor to the Prader\u2013Willi phenotype. Our case adds further information about genotype\u2013phenotype correlation and supports the hypothesis that SNORD116 plays a major role in the pathogenesis of Prader\u2010Willi syndrome. Furthermore, it examplifies diagnostic difficulties in atypical cases and illustrates the need for additional testing methods when Prader\u2010Willi syndrome is suspected. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36307","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T20:42:40Z","timestamp":1386276160000},"page":"425-431","source":"Crossref","is-referenced-by-count":31,"title":["Small mosaic deletion encompassing the snoRNAs and <i>SNURF<\/i><i>\u2010<\/i><i>SNRPN<\/i> results in an atypical Prader\u2013Willi syndrome phenotype"],"prefix":"10.1002","volume":"164","author":[{"given":"Britt\u2010Marie","family":"Anderlid","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre of Molecular Medicine Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm 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