{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T23:49:44Z","timestamp":1777765784316,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T00:00:00Z","timestamp":1511222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the <jats:italic>EHMT1<\/jats:italic> gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review.<\/jats:p>","DOI":"10.1111\/jog.13517","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T06:58:38Z","timestamp":1511247518000},"page":"570-575","source":"Crossref","is-referenced-by-count":11,"title":["First prenatal diagnosis of a \u2018pure\u2019 9q34.3 deletion (Kleefstra syndrome): A case report and literature review"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3491-2297","authenticated-orcid":false,"given":"Sarah","family":"Guterman","sequence":"first","affiliation":[{"name":"EA7404\u2010GIG University Simone Veil of Health Sciences  UVSQ Montigny le Bretonneux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9r\u00e9nice","family":"Herv\u00e9","sequence":"additional","affiliation":[{"name":"EA7404\u2010GIG University Simone Veil of Health Sciences  UVSQ Montigny le Bretonneux France"},{"name":"Cytogenetics Laboratory Poissy\/St Germain Hospital  Poissy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Rivi\u00e8re","sequence":"additional","affiliation":[{"name":"Lilas Hospital  Les Lilas France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Fauvert","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory Poissy\/St Germain Hospital  Poissy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrice","family":"Clement","sequence":"additional","affiliation":[{"name":"Clement Laboratory  Le Blanc\u2010Mesnil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Vialard","sequence":"additional","affiliation":[{"name":"EA7404\u2010GIG University Simone Veil of Health Sciences  UVSQ Montigny le Bretonneux France"},{"name":"Cytogenetics Laboratory Poissy\/St Germain Hospital  Poissy France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23324"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1159\/000335648","article-title":"Update on Kleefstra Syndrome","volume":"2","author":"Willemsen MH","year":"2012","journal-title":"Mol Syndromol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/505693"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1841"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1080\/01443615.2016.1245278","article-title":"Increased first\u2010trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome","volume":"37","author":"Huang LY","year":"2017","journal-title":"J Obstet Gynaecol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1159\/000370256","article-title":"Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion","volume":"144","author":"Penacho V","year":"2014","journal-title":"Cytogenet Genome Res"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1515"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.09.025"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2015.04.003"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028258"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14695"}],"container-title":["Journal of Obstetrics and Gynaecology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjog.13517","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jog.13517","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T15:24:26Z","timestamp":1695655466000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/jog.13517"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,21]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1111\/jog.13517"],"URL":"https:\/\/doi.org\/10.1111\/jog.13517","archive":["Portico"],"relation":{},"ISSN":["1341-8076","1447-0756"],"issn-type":[{"value":"1341-8076","type":"print"},{"value":"1447-0756","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,21]]}}}