{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:28:14Z","timestamp":1745468894388,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspicion prompted genetic investigations for Silver-Russell syndrome and related disorders. SNP array analysis led to the diagnosis of an approximately 10-Mb large deletion of the long arm in chromosome 16q22.2q23.3. Interstitial deletions of 16q show a wide variability of related features; however, considering the differences in size and location of the deletions in the known patients, the phenotypic overlap is surprising. Here, we report a novel microdeletion, compare the proband with data from scientific literature and international databases, and discuss possible diagnostic implications. <\/jats:p>","DOI":"10.1159\/000515941","type":"journal-article","created":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T21:00:35Z","timestamp":1626382835000},"page":"300-304","source":"Crossref","is-referenced-by-count":1,"title":["Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome"],"prefix":"10.1159","volume":"12","author":[{"given":"Anna","family":"Lengyel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Pinti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Fekete","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ir\u00e9n","family":"Haltrich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,7,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38832"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.828"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370414"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097-0223(199805)18:5%3c490::aid-pd281%3e3.0.co;2-4"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430311"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260128"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286649"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(1997)73:2%3c180::aid-ajmg13%3e3.0.co;2-q"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2019.07.005"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.03.001"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.138"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/515941","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/515941","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:39:30Z","timestamp":1745426370000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000515941"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,8,31]]},"published-print":{"date-parts":[[2021,8,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000515941","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.14986098","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2021]]}}}