{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:04:03Z","timestamp":1759730643951,"version":"3.38.0"},"reference-count":17,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[1999,11,1]],"date-time":"1999-11-01T00:00:00Z","timestamp":941414400000},"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":[[1999,11]]},"abstract":"<jats:p> We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE ( coloboma, heart malformation, atresia choanae, retarded growth and development, and\/or CNS anomalies, genital hypoplasia, ear anomalies and\/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and\/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology. <\/jats:p>","DOI":"10.1007\/s100249900165","type":"journal-article","created":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T06:40:57Z","timestamp":1027579257000},"page":"577-581","source":"Crossref","is-referenced-by-count":23,"title":["Charge Association-related Ocular Pathology in a Newborn with Partial Trisomy 19q and Partial Monosomy 21q, from a Maternal Translocation (19;21) (q13.1;q22.3)"],"prefix":"10.1177","volume":"2","author":[{"given":"Ronald R.","family":"De Krijger","sequence":"first","affiliation":[{"name":"Department of Pathology, University Hospital \u201cDijkzigt\u201d, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia M.","family":"Mooy","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Hospital \u201cDijkzigt\u201d, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan O.","family":"Van Hemel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Hospital \u201cDijkzigt\u201d, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric J.","family":"Sulkers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sophia Children's Hospital, Dr. Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johan M.","family":"Kros","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Hospital \u201cDijkzigt\u201d, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margot M.","family":"Bartelings","sequence":"additional","affiliation":[{"name":"Department of Anatomy, and Embryology, University of Leiden, Wassenaazseweg 62, 2333 AL Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lutgarde C.P.","family":"Govaerts","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University Hospital \u201cDijkzigt\u201d, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1999,11,1]]},"reference":[{"key":"bibr1-s100249900165","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5274.494"},{"key":"bibr2-s100249900165","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"bibr3-s100249900165","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O"},{"key":"bibr4-s100249900165","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410223"},{"key":"bibr5-s100249900165","doi-asserted-by":"publisher","DOI":"10.3928\/0191-3913-19980301-09"},{"key":"bibr6-s100249900165","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.74.7.421"},{"key":"bibr7-s100249900165","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-8525-7"},{"key":"bibr8-s100249900165","doi-asserted-by":"publisher","DOI":"10.3928\/0191-3913-19790301-10"},{"key":"bibr9-s100249900165","doi-asserted-by":"publisher","DOI":"10.3109\/13816818309007809"},{"issue":"219","key":"bibr10-s100249900165","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1111\/j.1600-0420.1996.tb00378.x","volume":"74","author":"Fledelius 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