{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T17:15:26Z","timestamp":1787159726162,"version":"build-2736575974"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:00:00Z","timestamp":1721088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>15q24.1 microdeletion syndrome is a recently described condition often resulting from non\u2010allelic homologous recombination (NAHR). Typical clinical features include pre and post\u2010natal growth retardation, facial dysmorphism, developmental delay and intellectual disability. Nonspecific urogenital, skeletal, and digit abnormalities may be present, although other congenital malformations are less frequent. Consequently, only one case was reported prenatally, complicating the genotype\u2013phenotype correlation and the genetic counseling. We identified prenatally a second case, presenting with cerebral abnormalities including hydrocephaly, macrocephaly, cerebellum hypoplasia, vermis hypoplasia, rhombencephalosynapsis, right kidney agenesis with left kidney duplication and micropenis. Genome\u2010wide aCGH assay allowed a diagnosis at 26\u2009weeks of amenorrhea revealing a 1.6\u2009Mb interstitial deletion on the long arm of chromosome 15 at 15q24.1\u2010q24.2 (arr[GRCh37] 15q24.1q24.2(74,399,112_76,019,966)x1). A deep review of the literature was undertaken to further delineate the prenatal clinical features and the candidate genes involved in the phenotype. Cerebral malformations are typically nonspecific, but microcephaly appears to be the most frequent in postnatal cases. Our case is the first reported with a frank cerebellar involvement.<\/jats:p>","DOI":"10.1111\/cge.14592","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T09:32:09Z","timestamp":1721122329000},"page":"537-544","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities"],"prefix":"10.1111","volume":"106","author":[{"given":"Ana\u00efk","family":"Previdi","sequence":"first","affiliation":[{"name":"APHP.Centre\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Cochin Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e9n\u00e9lope","family":"Jordan","sequence":"additional","affiliation":[{"name":"APHP.Centre\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Cochin Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Egloff","sequence":"additional","affiliation":[{"name":"AP\u2010HP.Nord\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Louis Mourier Service de Gyn\u00e9cologie Obst\u00e9trique  Colombes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Coussement","sequence":"additional","affiliation":[{"name":"APHP.Centre\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Cochin Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samira","family":"Ahmed\u2010Eli","sequence":"additional","affiliation":[{"name":"APHP.Centre\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Cochin Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Tudal","sequence":"additional","affiliation":[{"name":"AP\u2010HP.Nord\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Louis Mourier Service de Gyn\u00e9cologie Obst\u00e9trique  Colombes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[{"name":"APHP.Centre\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Cochin Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Picone","sequence":"additional","affiliation":[{"name":"AP\u2010HP.Nord\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Louis Mourier Service de Gyn\u00e9cologie Obst\u00e9trique  Colombes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Michel","family":"Dupont","sequence":"additional","affiliation":[{"name":"APHP.Centre\u2010Universit\u00e9 Paris Cit\u00e9, Site H\u00f4pital Cochin Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30836"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm016"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0706-x"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-2"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1265"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.12.006"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32904"},{"issue":"9","key":"e_1_2_11_9_1","first-page":"573","article-title":"Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants","volume":"12","author":"El\u2010Hattab AW","year":"2010","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.02.003"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33097"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.07.008"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1963-3"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-24064-0"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2009.07.031"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00769-7"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3619"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-7-98"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01790"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv069"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2156-14.2014"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105927"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.12.010"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0616-7"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<227::AID-AJMG5>3.0.CO;2-Q"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-021-00574-x"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/518177"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2019.0556"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23465"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1375\/twin.14.4.333"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32778"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-1-5"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23210"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14127"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.12.016"},{"issue":"21","key":"e_1_2_11_37_1","first-page":"4168","article-title":"Arid3b is essential for second heart field cell deployment and heart patterning","volume":"141","author":"Uribe V","year":"2014","journal-title":"Dev Camb Engl"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273663"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14592","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T22:23:31Z","timestamp":1727821411000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,16]]},"references-count":37,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1111\/cge.14592"],"URL":"https:\/\/doi.org\/10.1111\/cge.14592","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,16]]},"assertion":[{"value":"2024-04-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}