{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:03Z","timestamp":1761717963924},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,3,24]],"date-time":"2005-03-24T00:00:00Z","timestamp":1111622400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trisomy of the short arm of chromosome 4 is a well\u2010known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi\u2010lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations.<\/jats:p><jats:p>The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1).<\/jats:p><jats:p>The etiology of HPE is very heterogeneous; it includes non\u2010genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright \u00a9 2005 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1102","type":"journal-article","created":{"date-parts":[[2005,3,24]],"date-time":"2005-03-24T19:17:16Z","timestamp":1111691836000},"page":"193-197","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?"],"prefix":"10.1002","volume":"25","author":[{"given":"Houda","family":"Karmous\u2010Benailly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Claude","family":"Tabet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline","family":"Thaly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Dupuy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yol\u00e8ne","family":"Huten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Luton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,3,24]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00953.x"},{"key":"e_1_2_1_4_1","first-page":"108","article-title":"Pure 4p trisomy due to a de novo 4q; 22p dicentric translocated chromosome karyotype 46,XX,\u201022,+t(4;22)(q1200;p13)","volume":"34","author":"De Almeida JC","year":"1991","journal-title":"Ann Genet"},{"key":"e_1_2_1_5_1","first-page":"197","article-title":"Cerebral midline developmental anomalies: spectrum and associated features","volume":"1","author":"Delezoide AL","year":"1990","journal-title":"Genet Couns"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/344412"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340222"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02029349"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199805)18:5<477::AID-PD387>3.0.CO;2-J"},{"key":"e_1_2_1_11_1","first-page":"109","article-title":"Trisomy 4p due to recombination aneusomy of an inversion 4 (p 14, q 35)","volume":"17","author":"Rethor\u00e9 MO","year":"1974","journal-title":"Ann Genet"},{"key":"e_1_2_1_12_1","first-page":"125","article-title":"Trisomy 4p","volume":"17","author":"Rethor\u00e9 MO","year":"1974","journal-title":"Ann Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00087.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1178"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02015793"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460219"},{"key":"e_1_2_1_17_1","first-page":"679","article-title":"Inherited pericentric inversion of chromosome no. 4","volume":"22","author":"Wilson MG","year":"1970","journal-title":"Am J Hum Genet"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1102","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T19:54:02Z","timestamp":1700164442000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1002\/pd.1102"],"URL":"https:\/\/doi.org\/10.1002\/pd.1102","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3]]}}}