{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T04:35:40Z","timestamp":1723264540354},"reference-count":13,"publisher":"Cold Spring Harbor Laboratory","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Prenatal genetic testing has advanced rapidly in the past decade. However, not all results, including variants, are well understood. We report the finding of a 2.5-Mb gene region quadruplication of Chromosome 17p13.3. This region is well characterized for the deletion leading to Miller\u2013Dieker syndrome but has an unclear replication phenotype. Invasive testing performed after ultrasound abnormalities were seen revealed the quadruplication sequence as well as a short segment (850 kb) with x5 copy number variation. This region has previously been reported in a collection of duplications with shared phenotype; our quadruplication suggests similarities in phenotype. This raises the hypothesis of a potential spectrum or copy number variant\u2013based phenotype.<\/jats:p>","DOI":"10.1101\/mcs.a002196","type":"journal-article","created":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T13:45:25Z","timestamp":1527860725000},"page":"a002196","source":"Crossref","is-referenced-by-count":2,"title":["17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant"],"prefix":"10.1101","volume":"4","author":[{"given":"Nicholas","family":"Farris","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Said-Delgado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barrie","family":"Suskin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Klugman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2018,6,1]]},"reference":[{"key":"2021112406071015000_4.3.a002196.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.302"},{"key":"2021112406071015000_4.3.a002196.2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/1471-2350-13-93","article-title":"Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems","volume":"13","year":"2012","journal-title":"BMC Med Genet"},{"key":"2021112406071015000_4.3.a002196.3","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.gene.2013.09.044","article-title":"Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review","volume":"532","year":"2013","journal-title":"Gene"},{"key":"2021112406071015000_4.3.a002196.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35996"},{"key":"2021112406071015000_4.3.a002196.5","unstructured":"Dieker RH , Edwards RH , ZuRhein G , Chou SM , Hartman HA , Opitz JM . 1969. The lissencephaly syndrome. In The clinical delineation of birth defects: malformation syndromes (ed. Bergsma D ), pp. 53\u201364. National Foundation-March of Dimes II, New York."},{"key":"2021112406071015000_4.3.a002196.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80183-8"},{"key":"2021112406071015000_4.3.a002196.7","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/AOG.0000000000000336","article-title":"Association of copy number variants with specific ultrasonographically detected fetal anomalies","volume":"124","year":"2014","journal-title":"Obstet Gynecol"},{"key":"2021112406071015000_4.3.a002196.8","unstructured":"Genetics Home Reference, N.I.o.H. (2017, November 2009). https:\/\/ghr.nlm.nih.gov\/condition\/Miller\u2013Dieker-syndrome#sourcesforpage. Retrieved August 31, 2017."},{"key":"2021112406071015000_4.3.a002196.9","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102. Article published online before print in May 2002"},{"key":"2021112406071015000_4.3.a002196.10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.2.157"},{"key":"2021112406071015000_4.3.a002196.11","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1159\/000134638","article-title":"Assignment of the human 14-3-3 epsilon isoform (YWHAE) to human Chromosome 17p13 by in situ hybridization","volume":"78","year":"1997","journal-title":"Cytogenet Cell Genet"},{"key":"2021112406071015000_4.3.a002196.12","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1212\/WNL.13.10.841","article-title":"Lissencephaly in 2 siblings","volume":"13","year":"1963","journal-title":"Neurology"},{"key":"2021112406071015000_4.3.a002196.13","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a002196","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T14:11:12Z","timestamp":1637763072000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a002196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,6,1]]},"published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1101\/mcs.a002196"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a002196","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6]]}}}