{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:41:11Z","timestamp":1760773271673,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,2]]},"abstract":"<jats:p>We report on a newborn white male infant with marked dysmorphic features and various congenital malformations. The initial clinical evaluation showed Crouzon-like features as well as some features of trisomy 18 syndrome and trisomy 13 syndrome. The results from conventional cytogenetic analysis showed a structurally abnormal chromosome replacing one normal chromosome 18, but only by applying molecular cytogenetic methods could the architecture of this abnormal chromosome be characterised clearly. The primed in situ labelling (PRINS) technique, using a newly synthesised alpha 18 oligonucleotide, showed the dicentric pattern and direct chromosome painting established the origin to be from chromosome 18. The combination of conventional cytogenetics and molecular cytogenetics showed the karyotype in the proband to be 45,XY,-14,-18,-21,+t(14;21),+psu dic(18) (qter--&gt;cen--&gt;p11.3: :p11.3--&gt;psu cen--&gt;qter). This was supported by molecular analysis using chromosome 18 specific DNA markers, which showed the paternal origin of the abnormal chromosome.<\/jats:p>","DOI":"10.1136\/jmg.31.2.99","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"99-102","source":"Crossref","is-referenced-by-count":10,"title":["Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS)."],"prefix":"10.1136","volume":"31","author":[{"given":"C A","family":"Brandt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Djernes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Str\u00f8mkjaer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M B","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Hindkjaer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Brinch-Iversen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Bruun-Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/j.1399-0004.1992.tb03670.x","article-title":"Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe","volume":"41","author":"Meguid, N.A.; Habibian, R.","year":"1992","unstructured":"Meguid NA, Habibian R. Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe. Clin Genet 1992;41:225-8.","journal-title":"Clin Genet"},{"key":"ref_2","first-page":"9138","article-title":"Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocation","volume-title":"of chromosome 4. Proc Natl Acad Sci","volume":"85","author":"Pinkel, D.; Landegent, J.; Collins, C.","year":"1988","unstructured":"Pinkel D, Landegent J, Collins C, et al. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocation of chromosome 4. Proc Natl Acad Sci USA 1988;85:9138-42."},{"key":"ref_3","first-page":"6622","article-title":"A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres","volume-title":"of human chromosomes. Proc Natl Acad Sci","volume":"85","author":"Moyzis, R.K.; Buckingham, J.M.; Cram, L.S.","year":"1988","unstructured":"Moyzis RK, Buckingham JM, Cram LS, et al. A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci USA 1988;85:6622-6."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1126\/science.2999980","article-title":"Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia","volume":"230","author":"Saiki, R.K.; Scharf, S.; Faloona, F.","year":"1985","unstructured":"Saiki RK, Scharf S, Faloona F, et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985;230: 1350-4.","journal-title":"Science"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1093\/hmg\/1.8.658","article-title":"Tetranucleotide repeat polymorphism at the human myelin basic protein gene (MBP)","volume":"1","author":"Polymeropoulos, M.H.; Xiao, H.; Merril, C.R.","year":"1992","unstructured":"Polymeropoulos MH, Xiao H, Merril CR. Tetranucleotide repeat polymorphism at the human myelin basic protein gene (MBP). Hum Mol Genet 1992;1:658.","journal-title":"Hum Mol Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00327311","article-title":"Oligonucleotide-priming methods for the chromosomespecific labelling of alpha satellite DNA in situ","volume":"98","author":"Koch, J.E.; Kolvraa, S.; Petersen, K.B.; Gregersen, N.; Bolund, L.","year":"1989","unstructured":"Koch JE, Kolvraa S, Petersen KB, Gregersen N, Bolund L. Oligonucleotide-priming methods for the chromosomespecific labelling of alpha satellite DNA in situ. Chromosoma 1989;98:259-65.","journal-title":"Chromosoma"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/1050-3862(91)90058-Y","article-title":"An improved method for chromosome-specific labelling of alpha satellite DNA using denatured doublestranded DNA probes as primers in a PRimed IN Situ labelling (PRINS)","volume":"8","author":"Koch, J.; Hindkjxr, J.; Mogensen, J.; Kolvraa, S.; Bolund, L.","year":"1991","unstructured":"Koch J, Hindkjxr J, Mogensen J, Kolvraa S, Bolund L. An improved method for chromosome-specific labelling of alpha satellite DNA using denatured doublestranded DNA probes as primers in a PRimed IN Situ labelling (PRINS). 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Ann Genet (Paris) 1982;25: 116-18.","journal-title":"Ann Genet (Paris)"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.2.99","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:05:48Z","timestamp":1760771148000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.2.99"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1994,2,1]]},"published-print":{"date-parts":[[1994,2]]}},"alternative-id":["10.1136\/jmg.31.2.99"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.2.99","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,2]]}}}