{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:58:10Z","timestamp":1745470690565,"version":"3.40.4"},"reference-count":15,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2006]]},"abstract":"<jats:p>&lt;i&gt;Objective and Methods:&lt;\/i&gt; We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) and confirmed by CGH array. The clinical picture of our patient was consistent, but not specific of the diagnosis of Pallister-Killian syndrome. She presented with the association of antenatal polyhydramnios, craniofacial dysmorphic features, skeletal abnormalities, and a congenital cardiopathy. &lt;i&gt;Conclusion:&lt;\/i&gt; We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.<\/jats:p>","DOI":"10.1159\/000095658","type":"journal-article","created":{"date-parts":[[2006,9,12]],"date-time":"2006-09-12T11:07:55Z","timestamp":1158059275000},"page":"485-488","source":"Crossref","is-referenced-by-count":6,"title":["Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array"],"prefix":"10.1159","volume":"21","author":[{"given":"Andr\u00e9e","family":"Delahaye","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Pipiras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Delorme-Vincent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moncef","family":"Benkhalifa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Kasakyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Devisme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Philippe","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Benzacken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,11,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320310416"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320350416"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.10877"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200984"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1399-0004.1998.5440406.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.20339"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.1970151212"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320270204"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093%2Fhumrep%2F13.4.805"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.115"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2FS0015-0282%2800%2901703-9"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200669"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1086%2F421250"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fgcc.2870100403"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5201175"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/95658","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/95658","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:44:15Z","timestamp":1745462655000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000095658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":15,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2006,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000095658","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"type":"print","value":"1015-3837"},{"type":"electronic","value":"1421-9964"}],"subject":[],"published":{"date-parts":[[2006]]}}}