{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:44:30Z","timestamp":1771494270578,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T00:00:00Z","timestamp":1511913600000},"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":[[2018,2]]},"abstract":"High throughput approaches are continuously progressing and have become a major part of clinical diagnostics. Still, the critical process of detailed phenotyping and gathering clinical information has not changed much in the last decades. Forms of next generation phenotyping (NGP<\/jats:styled-content>) are needed to increase further the value of any kind of genetic approaches, including timely consideration of (molecular) cytogenetics during the diagnostic quest. As NGP<\/jats:styled-content> we used in this study the facial dysmorphology novel analysis (FDNA<\/jats:styled-content>) technology to automatically identify facial phenotypes associated with Emanuel (ES<\/jats:styled-content>) and Pallister\u2010Killian Syndrome (PKS<\/jats:styled-content>) from 2D<\/jats:styled-content> facial photos. The comparison between ES<\/jats:styled-content> or PKS<\/jats:styled-content> and normal individuals expressed a full separation between the cohorts. Our results show that NPG<\/jats:styled-content> is able to help in the clinic, and could reduce the time patients spend in diagnostic odyssey. It also helps to differentiate ES<\/jats:styled-content> or PKS<\/jats:styled-content> from each other and other patients with small supernumerary marker chromosomes, especially in countries with no access to more sophisticated genetic approaches apart from banding cytogenetics. Inclusion of more facial pictures of patient with sSMC<\/jats:styled-content>, like isochromosome\u201018p\u2010, cat\u2010eye\u2010syndrome or others may contribute to higher detection rates in future.<\/jats:p>","DOI":"10.1111\/cge.13087","type":"journal-article","created":{"date-parts":[[2017,6,29]],"date-time":"2017-06-29T15:56:42Z","timestamp":1498751802000},"page":"378-381","source":"Crossref","is-referenced-by-count":47,"title":["Next generation phenotyping in Emanuel and Pallister\u2010Killian syndrome using computer\u2010aided facial dysmorphology analysis of 2D<\/scp> photos"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1672-3054","authenticated-orcid":false,"given":"T.","family":"Liehr","sequence":"first","affiliation":[{"name":"Jena University Hospital Friedrich Schiller University, Institute of Human Genetics Jena Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Acquarola","sequence":"additional","affiliation":[{"name":"Pallister\u2010Killian Syndrome Foundation of Australia Myaree Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Pyle","sequence":"additional","affiliation":[{"name":"Jena University Hospital Friedrich Schiller University, Institute of Human Genetics Jena Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"St\u2010Pierre","sequence":"additional","affiliation":[{"name":"Chromosome 22 Central Timmins Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Rinholm","sequence":"additional","affiliation":[{"name":"Chromosome 22 Central Fuquay\u2010Varina North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Bar","sequence":"additional","affiliation":[{"name":"FDNA Inc. Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Wilhelm","sequence":"additional","affiliation":[{"name":"Jena University Hospital Friedrich Schiller University, Institute of Human Genetics Jena Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Schreyer","sequence":"additional","affiliation":[{"name":"Jena University Hospital Friedrich Schiller University, Institute of Human Genetics Jena Germany"},{"name":"Center for Ambulant Medicine Human Genetics Jena Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.atg.2015.06.001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-662-52959-1","volume-title":"Fluorescence in situ Hybridization (FISH) \u2013 Application Guide","author":"Liehr T","year":"2017"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920210793176029"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36861"},{"key":"e_1_2_7_6_1","volume-title":"Small Supernumerary Marker Chromosomes (sSMC) A Guide for Human Geneticists and Clinicians; With contributions by UNIQUE (The Rare Chromosome Disorder Support Group)","author":"Liehr T","year":"2012"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-46"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/09540261.2013.799460"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22048"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12716"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","DOI":"10.1597\/15-151","article-title":"Familial recurrence of 3MC syndrome in consanguineous families: a clinical and molecular diagnostic approach with review of the literature","author":"Gardner OK","year":"2017","journal-title":"Cleft Palate Craniofac J"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.476"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12948"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37672"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3555"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22536"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.09.006"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/161648"},{"key":"e_1_2_7_19_1","first-page":"00005","article-title":"FISH \u2013 the best technique in characterization of prenatally detected small supernumerary marker chromosomes (sSMC)","volume":"1","author":"Sheth FJ","year":"2016","journal-title":"Int J Preg Child Birth"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13087","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13087","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T07:26:11Z","timestamp":1695885971000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13087"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,29]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/cge.13087"],"URL":"https:\/\/doi.org\/10.1111\/cge.13087","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,29]]}}}