{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T06:06:39Z","timestamp":1768716399153,"version":"3.49.0"},"reference-count":22,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T00:00:00Z","timestamp":1120176000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2005,7]]},"abstract":"<jats:p> During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted chorionic villus sampling at 13 weeks 2 days. Chromosome analysis showed an unbalanced karyotype with an abnormal chromosome 14. The mother was a carrier of a translocation karyotype 46,XX,t(13;14) (q34;q32.2). In the fetus this gave rise to a partial trisomy 13q and partial monosomy 14q (fetal karyotype: 46,XX,der[14]t[13;14][q34;q32.2]). By Array-CGH on DNA extracted from a postmortem skin culture, a duplication of approximately 1.7 Mbp of the distal part of chromosome 13q34 and a deletion of approximately 6.0 Mbp of the distal part of chromosome 14q32.2 was demonstrated. Postmortem findings after termination of pregnancy at 14 weeks 6 days included, among others, a severe hypoplasia of the median part of the maxilla, no recognizable nose, a broad median palatoschisis, nonlobulated lungs, a horseshoe kidney with multicystic dysplasia, and decreased development of cortical cellularity in the thymus. These clinical manifestations and autopsy findings of the fetus are compared with those of previously published cases and the possible involvement in this pathology of the YY1 and JAG2 transcription factors and the BCL11b and SIVA-1 regulators of thymic development is discussed. <\/jats:p>","DOI":"10.1007\/s10024-005-0041-8","type":"journal-article","created":{"date-parts":[[2005,10,12]],"date-time":"2005-10-12T13:01:54Z","timestamp":1129122114000},"page":"497-503","source":"Crossref","is-referenced-by-count":10,"title":["Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q"],"prefix":"10.1177","volume":"8","author":[{"given":"J. M.","family":"De Pater","sequence":"first","affiliation":[{"name":"Department of Biomedical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. G. J.","family":"Nikkels","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Gynecology, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Poot","sequence":"additional","affiliation":[{"name":"Department of Biomedical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. J.","family":"Eleveld","sequence":"additional","affiliation":[{"name":"Department of Biomedical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. H.","family":"Stigter","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. J. M.","family":"Van Der Sijs-Bos","sequence":"additional","affiliation":[{"name":"Department of Biomedical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. H.","family":"Loneus","sequence":"additional","affiliation":[{"name":"Research Institute of Growth and Development, Department of Clinical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. J. M.","family":"Engelen","sequence":"additional","affiliation":[{"name":"Research Institute of Growth and Development, Department of Clinical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2005,7,1]]},"reference":[{"key":"bibr1-s10024-005-0041-8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10207"},{"key":"bibr2-s10024-005-0041-8","unstructured":"SchinzelA. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: Walter de Gruyter, 2001;585\u2013587."},{"key":"bibr3-s10024-005-0041-8","unstructured":"WigglesworthJS. Perinatal Pathology, 2nd ed. Philadelphia: W.B. 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