{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:24Z","timestamp":1761717924560},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,11,26]],"date-time":"2003-11-26T00:00:00Z","timestamp":1069804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Deutsche Forschungsgemeinschaft (to M.R.S.)","award":["DFG Sp 460\/4-1"],"award-info":[{"award-number":["DFG Sp 460\/4-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter\u2009\u2192\u2009q22.1::q22.1\u2009\u2192\u2009pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non\u2010mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q\u2212) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8\u201365.7 Mb from the telomere of the p\u2010arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q\u2212 chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter\u2009\u2192\u2009q22.1::q22.1\u2009\u2192\u2009pter)) in non\u2010mosaic form can be viable, but is associated with severe congenital malformations of the child. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20644","type":"journal-article","created":{"date-parts":[[2004,4,15]],"date-time":"2004-04-15T22:04:16Z","timestamp":1082066656000},"page":"58-64","source":"Crossref","is-referenced-by-count":5,"title":["First non\u2010mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter\u2009\u2192\u2009q22.1::q22.1\u2009\u2192\u2009pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q\u2212 syndrome"],"prefix":"10.1002","volume":"127A","author":[{"given":"M.","family":"Meins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"B\u00f6hm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gro\u00dfmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Herting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Fleckenstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Fauth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.","family":"Speicher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Schindler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Zoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Bartels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Burfeind","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,11,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530317"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302875"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.2.99"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360221"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140710"},{"key":"e_1_2_7_7_1","first-page":"160","volume-title":"Clinical atlas of human chromosomes","author":"De Grouchy J","year":"1977"},{"key":"e_1_2_7_8_1","first-page":"116","article-title":"A case of Edward's syndrome with pseudodicentric isochromosome 18: 46,XY,idic(18)(p11::p11)","volume":"25","author":"Fioretti G","year":"1982","journal-title":"Ann Genet"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02971.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1992.tb01002.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02515.x"},{"key":"e_1_2_7_12_1","first-page":"78","article-title":"Translocations termino\u2010terminales de novo entre deux chromosomes 18. 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