{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:49:32Z","timestamp":1764172172678,"version":"3.40.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"2-3","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Supernumerary ring chromosomes (SRC) are usually derived from regions adjacent to the centromere. Their identification may be challenging, particularly in case of low mosaicism. Here, we report on a patient who was referred for major in utero growth retardation, severe developmental delay, facial dysmorphism, cleft palate, and hypospadias. The karyotype showed a small SRC in mosaic. The combination of FISH, M-FISH and array-CGH was necessary for a complete characterization of this SRC. M-FISH revealed that the SRC originated from chromosome 7. Array-CGH performed with a 400K oligonucleotide array showed a gain in region 7q22.1q31.1 present in low mosaic. This result was confirmed by FISH using BAC probes specific for chromosome 7. The SRC was a neocentric ring derived from 7q22.1q31.1 and was found in only 8% of the cells. This is the first patient carrying a mosaic neocentric SRC derived from the long arm of chromosome 7. Our study emphasizes the need to combine different techniques and to use adapted bioinformatic tools for low-mosaicism marker identification. It also contributes to the delineation of the partial trisomy 7q phenotype.<\/jats:p>","DOI":"10.1159\/000442265","type":"journal-article","created":{"date-parts":[[2015,12,16]],"date-time":"2015-12-16T00:05:10Z","timestamp":1450224310000},"page":"111-117","source":"Crossref","is-referenced-by-count":4,"title":["Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7"],"prefix":"10.1159","volume":"147","author":[{"given":"Camille","family":"Louvrier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gr\u00e9gory","family":"Egea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Des Portes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Gazzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyne","family":"Callet-Bauchu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Till","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Schluth-Bolard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,12,16]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1073\/pnas.0308637101"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1007\/BF00206754"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1002\/ajmg.a.31539"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1097\/GIM.0b013e3180312087"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1002\/pd.1970141103"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1002\/ajmg.a.32532"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1002\/ajmg.a.35995"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1159\/000336648"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1159\/000437196"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1111\/cge.12138"},{"doi-asserted-by":"publisher","key":"ref11","DOI":"10.1016\/j.ajhg.2007.11.009"},{"doi-asserted-by":"publisher","key":"ref12","DOI":"10.1002\/1096-8628(20001113)95:2<164::AID-AJMG14>3.3.CO;2-7"},{"doi-asserted-by":"publisher","key":"ref13","DOI":"10.1007\/BF00304563"},{"doi-asserted-by":"publisher","key":"ref14","DOI":"10.1136\/jmg.27.2.109"},{"doi-asserted-by":"publisher","key":"ref15","DOI":"10.1002\/gcc.2870090307"},{"doi-asserted-by":"publisher","key":"ref16","DOI":"10.1093\/nar\/17.17.7117"},{"doi-asserted-by":"publisher","key":"ref17","DOI":"10.1177\/0883073807309776"},{"doi-asserted-by":"publisher","key":"ref18","DOI":"10.1002\/ajmg.1320470316"},{"doi-asserted-by":"publisher","key":"ref19","DOI":"10.1023\/B:CHRO.0000036585.44138.4b"},{"doi-asserted-by":"publisher","key":"ref20","DOI":"10.1186\/1755-8166-4-28"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442265","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442265","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:07:33Z","timestamp":1745431653000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000442265"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":20,"journal-issue":{"issue":"2-3","published-online":{"date-parts":[[2016,3,1]]},"published-print":{"date-parts":[[2016,3,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000442265","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5129086","asserted-by":"subject"}]},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2015]]}}}