{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T03:05:09Z","timestamp":1710471909968},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,1,16]],"date-time":"2012-01-16T00:00:00Z","timestamp":1326672000000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>High resolution detection of genomic copy number abnormalities in a single cell is relevant to preimplantation genetic diagnosis and potentially to noninvasive prenatal diagnosis. Our objective is to develop a reliable array comparative genomic hybridization (CGH) platform to detect genomic imbalances as small as ~1\u2009Mb in a single cell.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We empirically optimized the conditions for oligonucleotide\u2010based array CGH using single cells from multiple lymphoblastoid cell lines with known copy number abnormalities. To improve resolution, we designed custom arrays with high density probes covering clinically relevant genomic regions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The detection of megabase\u2010sized copy number variations (CNVs) in a single cell was influenced by the number of probes clustered in the interrogated region. Using our custom array, we reproducibly detected multiple chromosome abnormalities including trisomy 21, a 1.2\u2009Mb Williams syndrome deletion, and a 1.3\u2009Mb CMT1A duplication. Replicate analyses yielded consistent results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Aneuploidy and genomic imbalances with CNVs as small as 1.2\u2009Mb in a single cell are detectable by array CGH using arrays with high\u2010density coverage in the targeted regions. This approach has the potential to be applied for preimplantation genetic diagnosis to detect aneuploidy and common microdeletion\/duplication syndromes and for noninvasive prenatal diagnosis if single fetal cells can be isolated. \u00a9 2012 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.2855","type":"journal-article","created":{"date-parts":[[2012,1,16]],"date-time":"2012-01-16T15:23:17Z","timestamp":1326727397000},"page":"10-20","source":"Crossref","is-referenced-by-count":26,"title":["Detection of \u22651\u2009Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays"],"prefix":"10.1002","volume":"32","author":[{"given":"Weimin","family":"Bi","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Breman","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chad A.","family":"Shaw","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Gambin","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"},{"name":"Institute of Computer Science Warsaw University of Technology  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyan","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laird G.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Drexel University College of Medicine  Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignatia B. Van","family":"den Veyver","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"},{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur L.","family":"Beaudet","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,1,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V88.11.4390.bloodjournal88114390"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170095"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2009.11.022"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/514885"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibtech.2010.03.002"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2127"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7754"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2006.326"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl1030"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp526"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-100708-204735"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.302"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp151"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b4420"},{"key":"e_1_2_6_16_1","article-title":"Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos","author":"Gutierrez\u2010Mateo C","year":"2010","journal-title":"Fertil Steril"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2010.04.064"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.347"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.165563"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001720"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.c7401"},{"issue":"205","key":"e_1_2_6_22_1","first-page":"e1","article-title":"Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting","volume":"204","author":"Ehrich M","year":"2011","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.2.705"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.2855","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.2855","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T02:50:53Z","timestamp":1697511053000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.2855"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1002\/pd.2855"],"URL":"https:\/\/doi.org\/10.1002\/pd.2855","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}