{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:02:27Z","timestamp":1762542147039},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,4,5]],"date-time":"2013-04-05T00:00:00Z","timestamp":1365120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>Small supernumerary marker chromosomes (<jats:styled-content style=\"fixed-case\">sSMCs<\/jats:styled-content>) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of <jats:italic>de novo<\/jats:italic> <jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content>, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study  aimed to determine the presence or absence of euchromatin material of 39 <jats:italic>de novo<\/jats:italic> prenatally ascertained <jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content> by array\u2010comparative genomic hybridization (array\u2010<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content>) or single nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (<jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>), 0.042\u20130.082]. Array\u2010<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content> showed that 22 markers were derived from non\u2010acrocentric markers (56.4%) and 7 from acrocentic markers (18%). The 10 additional cases remained unidentified (25.6%), but 7 of 10 could be further identified using fluorescence <jats:italic>in situ<\/jats:italic> hybridization; 69% of <jats:italic>de novo<\/jats:italic> <jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content> contained euchromatin material, 95.4% of which for non\u2010acrocentric markers. Some <jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content> containing euchromatin had a normal phenotype (31% for non\u2010acrocentric and 75% for acrocentric markers). Statistical differences between normal and abnormal phenotypes were shown for the size of the euchromatin material (more or less than 1\u2009Mb, p\u2009=\u20090.0006) and number of genes (more or less than 10, p\u2009=\u20090.0009). This study is the largest to date and shows the utility of array\u2010<jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content> or <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> array in the detection and characterization of <jats:italic>de novo<\/jats:italic> <jats:styled-content style=\"fixed-case\">sSMC<\/jats:styled-content> in a prenatal context.<\/jats:p>","DOI":"10.1111\/cge.12138","type":"journal-article","created":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T19:43:24Z","timestamp":1363203804000},"page":"233-244","source":"Crossref","is-referenced-by-count":24,"title":["Molecular characterization of 39 <i>de novo<\/i><scp>sSMC<\/scp>: contribution to prognosis and genetic counselling, a prospective study"],"prefix":"10.1111","volume":"85","author":[{"given":"N.","family":"Marle","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Le Bocage Universit\u00e9 de Bourgogne  Dijon 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