{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:54Z","timestamp":1760906934112},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,2,26]],"date-time":"2009-02-26T00:00:00Z","timestamp":1235606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 36\u2010year\u2010old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, \u201cmuscular build,\u201d and hand\/foot anomalies, is reported. Following a diagnosis of de novo pericentric inversion of chromosome 8 based on standard cytogenetic analysis, a subsequent 75 kb array\u2010CGH investigation disclosed a deletion spanning for about 13.7 Mb in the 2q31.2q32.3 region. Whole painting of chromosome 8 established the intrachromosomal nature of the rearrangement and FISH analysis with locus\u2010specific probes confirmed the deletion on the long arm of chromosome 2. The deleted region, clinical outcome, and medical history in this patient are mainly superimposable to those reported in a published 8\u2010year\u2010old boy, suggesting that this genomic segment is prone to rearrangements and its hemizygosity gives rise to a clinically recognizable syndrome. The role of some genes mapping in the deleted region and related with distinct disorders is discussed. Interestingly, deletion of <jats:italic>MSTN<\/jats:italic> gene, a negative regulator of muscle growth, was associated in our patient with a \u201cmuscular build,\u201d a feature which could be regarded as a handle for clinical recognition of this syndrome. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32688","type":"journal-article","created":{"date-parts":[[2009,2,26]],"date-time":"2009-02-26T19:13:54Z","timestamp":1235675634000},"page":"706-712","source":"Crossref","is-referenced-by-count":32,"title":["2q31.2q32.3 deletion syndrome: Report of an adult patient"],"prefix":"10.1002","volume":"149A","author":[{"given":"Paolo","family":"Prontera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Stangoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Capalbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Rogaia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmela","family":"Ardisia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Donti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1128406"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/521033"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/27.2.163"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1095"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/508214"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","DOI":"10.1002\/0471695998","volume-title":"Management of genetic syndromes","author":"Cassidy SB","year":"2005"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.42.26131"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04437.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/387083a0"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31602"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320318"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370320"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/342928"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa040933"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/324123"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/381055"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.05.005"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32688","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32688","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:14:15Z","timestamp":1697602455000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32688"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32688"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32688","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}