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The majority of the reported 20p deletions are located on the 20p12 region, covering the <jats:italic>JAG1<\/jats:italic> gene responsible for the Alagille syndrome. More proximal deletions are even rarer, with very few cases described in the literature to date. The deletion carried by our patient is, to our knowledge, the smallest described de novo proximal 20p11.2 deletion. It was first discovered by 0.5\u2009Mb BAC array\u2010CGH, further delineated using an oligonucleotide array, and finally confirmed by fluorescence in situ hybridization. The deletion is 4.22\u2009Mb in size, with the exact location on chr20: 19.810.034\u201324.031.344 (Feb. 2009, GRCh37\/hg19). In light of the other reported cases that display genomic and phenotypic overlap with our patient, we discuss the phenotype of our patient, in order to further delineate the 20p proximal deletion phenotype. We propose a minimal critical region responsible for panhypopituitarism with global developmental delay, intellectual disability, scoliosis and facial dysmorphism. Moreover, considering the deleted genes, we highlight the impact of the deletion of this minimal critical region on the Shh signaling pathway. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35921","type":"journal-article","created":{"date-parts":[[2013,5,8]],"date-time":"2013-05-08T14:42:29Z","timestamp":1368024149000},"page":"1547-1554","source":"Crossref","is-referenced-by-count":18,"title":["Delineation of a region responsible for panhypopituitarism in 20p11.2"],"prefix":"10.1002","volume":"161","author":[{"given":"Manal","family":"Dayem\u2010Quere","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital de l'Archet II, CHU Nice Nice Cedex 3 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Giuliano","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital de l'Archet II, CHU Nice Nice Cedex 3 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