{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T06:20:57Z","timestamp":1789885257778,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T00:00:00Z","timestamp":1492041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF2011\u201002350693"],"award-info":[{"award-number":["RF2011\u201002350693"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca Corrente 2016"],"award-info":[{"award-number":["Ricerca Corrente 2016"]}],"id":[{"id":"10.13039\/501100003196","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":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay. SNP array analysis revealed a 1.9\u2009Mb heterozygous 12q14.2q14.3 deletion in all three patients encompassing 14 genes and 3 miRNAs. In addition, the younger brother carried a paternal 11q13.4 duplication including the <jats:italic>SHANK2<\/jats:italic> gene. This latter patient was investigated for developmental delay and did not show osteopoikilosis, confirming the role of age in the clinical presentation of this condition. To the best of our knowledge, this is the second family described with the syndrome. Comparing the clinical and molecular data of our patients with those previously reported we performed a detailed genotype\u2013phenotype correlation confirming the association between growth retardation and osteopoikilosis when the rearrangement includes both <jats:italic>LEMD3<\/jats:italic> and <jats:italic>HMGA2<\/jats:italic> genes. In addition, we suggest the <jats:italic>XPOT<\/jats:italic>, <jats:italic>TBK1<\/jats:italic>, <jats:italic>WIF1<\/jats:italic> genes as candidates for the clinical features observed in our patients and discuss for the first time the possible involvement of some microRNAs, when deleted, in the etiology of the phenotypes in 12q14 microdeletion syndrome patients. We expect the interpretation of our findings to be useful both from a molecular point of view and for genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38253","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T18:36:23Z","timestamp":1492108583000},"page":"1922-1930","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature"],"prefix":"10.1002","volume":"173","author":[{"given":"Rita","family":"Fischetto","sequence":"first","affiliation":[{"name":"U.O.C. Malattie Metaboliche Genetica Medica PO Giovanni XXIII, A.O.U. Policlinico Consorziale Bari Italy"},{"name":"Istituto di Biologia e Genetica Generale, Medicina e Chirurgia Universit\u00e0 degli Studi di Bari \u201cAldo Moro\u201d Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6583-3482","authenticated-orcid":false,"given":"Orazio","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Ortolani","sequence":"additional","affiliation":[{"name":"U.O.C. Malattie Metaboliche Genetica Medica PO Giovanni XXIII, A.O.U. 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