{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:11:54Z","timestamp":1761822714573},"reference-count":32,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T00:00:00Z","timestamp":1096588800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annales de G\u00e9n\u00e9tique"],"published-print":{"date-parts":[[2004,10]]},"DOI":"10.1016\/j.anngen.2004.07.005","type":"journal-article","created":{"date-parts":[[2004,8,27]],"date-time":"2004-08-27T18:24:01Z","timestamp":1093631041000},"page":"405-417","source":"Crossref","is-referenced-by-count":16,"title":["A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES)"],"prefix":"10.1016","volume":"47","author":[{"given":"J.","family":"Lespinasse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Testard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Nugues","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Till","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.P.","family":"Cordier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Althuser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Amblard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Fert-Ferrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Durand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Dalmon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Pourcel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.S.","family":"Jouk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"857","key":"10.1016\/j.anngen.2004.07.005_bib1","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1259\/bjr.72.857.10505009","article-title":"Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down\u2019s syndrome in an unselected antenatal population","volume":"72","author":"Adekunle","year":"1999","journal-title":"Br. J. Radiol."},{"issue":"5","key":"10.1016\/j.anngen.2004.07.005_bib2","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/1096-8628(20001023)94:5<428::AID-AJMG16>3.0.CO;2-M","article-title":"Phenotype of a patient with pure partial trisomy 2p(p23\u2192pter)","volume":"94","author":"Al-Saffar","year":"2000","journal-title":"Am. J. Med. Genet. 23"},{"key":"10.1016\/j.anngen.2004.07.005_bib3","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1006\/geno.1998.5365","article-title":"Analysis of distribution in the human, pig, and rat genomes points toward a general subtelomeric origin of minisatellite structures","volume":"52","author":"Amarger","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.anngen.2004.07.005_bib4","first-page":"230","article-title":"The EUROGEM map of human chromosome 14","volume":"2","author":"Attwood","year":"1994","journal-title":"Eur. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.anngen.2004.07.005_bib5","first-page":"96","article-title":"Magnetic resonance imaging of normal and abnormal brain development","volume":"5","author":"Barkovich","year":"1993","journal-title":"Top. Magn. Reson. Imaging"},{"issue":"7","key":"10.1016\/j.anngen.2004.07.005_bib6","first-page":"1037","article-title":"Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2","volume":"28","author":"Barrett","year":"1987","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.anngen.2004.07.005_bib7","series-title":"Imaging of the pediatric head, neck and spine, Developmental anomalies, Infratentorial","first-page":"91","author":"Castillo","year":"1996"},{"key":"10.1016\/j.anngen.2004.07.005_bib8","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1136\/jmg.38.2.121","article-title":"Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation","volume":"38","author":"Giraudeau","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.anngen.2004.07.005_bib9","series-title":"The human genome project and its impact on the study of human disease","first-page":"401","author":"Green","year":"1995"},{"issue":"4","key":"10.1016\/j.anngen.2004.07.005_bib10","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/ajmg.1320330418","article-title":"Terminal deletion of the long arm of chromosome 10: case report and review of the literature","volume":"33","author":"Gorinati","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.anngen.2004.07.005_bib11","first-page":"222","article-title":"The EUROGEM map of human chromosome 10","volume":"21","author":"Kapsetaki","year":"1994","journal-title":"Eur. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.anngen.2004.07.005_bib12","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1136\/jmg.37.6.401","article-title":"Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis","volume":"37","author":"Knight","year":"2000","journal-title":"Med. Genet."},{"issue":"1","key":"10.1016\/j.anngen.2004.07.005_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000484724","article-title":"Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres","volume":"5","author":"Knight","year":"1997","journal-title":"Eur. J. Hum. Genet."},{"issue":"9191","key":"10.1016\/j.anngen.2004.07.005_bib14","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1016\/S0140-6736(99)03070-6","article-title":"Subtle chromosomal rearrangements in children with unexplained mental retardation","volume":"354","author":"Knight","year":"1999","journal-title":"Lancet 13"},{"issue":"3","key":"10.1016\/j.anngen.2004.07.005_bib15","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.1399-0004.1982.tb00962.x","article-title":"Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and delection 10q","volume":"21","author":"Larson","year":"1982","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.anngen.2004.07.005_bib16","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1101\/gr.5.3.225","article-title":"Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres","volume":"5","author":"Macina","year":"1995","journal-title":"Genome Res."},{"issue":"2","key":"10.1016\/j.anngen.2004.07.005_bib17","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1046\/j.1469-0705.2001.00342.x","article-title":"Limitations of using first-trimester nuchal translucency measurement in routine screening for major congenital heart defects","volume":"17","author":"Mavrides","year":"2001","journal-title":"Ultrasound Obstetr. Gynecol."},{"issue":"3","key":"10.1016\/j.anngen.2004.07.005_bib18","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1007\/s004390100585","article-title":"Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes","volume":"109","author":"Riegel","year":"2001","journal-title":"Hum. Genet."},{"issue":"4","key":"10.1016\/j.anngen.2004.07.005_bib19","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1136\/jmg.39.4.266","article-title":"Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation","volume":"39","author":"Rio","year":"2002","journal-title":"J. Med. Genet"},{"issue":"5","key":"10.1016\/j.anngen.2004.07.005_bib20","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/pd.321","article-title":"Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype","volume":"22","author":"Senat","year":"2002","journal-title":"Prenat. Diagn"},{"issue":"9125","key":"10.1016\/j.anngen.2004.07.005_bib21","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S0140-6736(97)11280-6","article-title":"UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10\u201314 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group","volume":"352","author":"Snijders","year":"1998","journal-title":"Lancet"},{"issue":"6","key":"10.1016\/j.anngen.2004.07.005_bib22","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1046\/j.1469-0705.1998.11060391.x","article-title":"Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10\u201314 weeks of gestation","volume":"11","author":"Souka","year":"1998","journal-title":"Ultrasound Obstet. Gynecol."},{"issue":"6","key":"10.1016\/j.anngen.2004.07.005_bib23","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/BF00355637","article-title":"Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family","volume":"6","author":"Stadler","year":"1995","journal-title":"Mamm. Genome"},{"issue":"4","key":"10.1016\/j.anngen.2004.07.005_bib24","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1055\/s-2002-34498","article-title":"Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children","volume":"33","author":"Toelle","year":"2002","journal-title":"Neuropediatrics"},{"issue":"5","key":"10.1016\/j.anngen.2004.07.005_bib25","first-page":"957","article-title":"MR imaging of rhombencephalosynapsis: report of three cases and review of the literature","volume":"12","author":"Truwit","year":"1991","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"3","key":"10.1016\/j.anngen.2004.07.005_bib26","first-page":"547","article-title":"Rhombencephalosynapsis: cerebellar embryogenesis","volume":"19","author":"Utsunomiya","year":"1998","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"7","key":"10.1016\/j.anngen.2004.07.005_bib27","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1101\/gr.10.7.899","article-title":"Minisatellites: mutability and genome architecture","volume":"10","author":"Vergnaud","year":"2000","journal-title":"Genome Res."},{"issue":"5","key":"10.1016\/j.anngen.2004.07.005_bib28","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1086\/340426","article-title":"High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization","volume":"70","author":"Veltman","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.anngen.2004.07.005_bib29","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1046\/j.1469-0705.2001.00383.x","article-title":"Fetal transcerebellar diameter and chromosomal abnormalities","volume":"17","author":"Vinkesteijn","year":"2001","journal-title":"Ultrasound Obstet. Gynecol."},{"issue":"1","key":"10.1016\/j.anngen.2004.07.005_bib30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<1::AID-AJMG1>3.0.CO;2-A","article-title":"Partial monosomy of distal 10q: three new cases and a review","volume":"86","author":"Waggoner","year":"1999","journal-title":"Am. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.anngen.2004.07.005_bib31","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00284586","article-title":"Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25","volume":"71","author":"Wakita","year":"1985","journal-title":"Hum. Genet."},{"issue":"3","key":"10.1016\/j.anngen.2004.07.005_bib32","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s004010100454","article-title":"Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations","volume":"103","author":"Yachnis","year":"2002","journal-title":"Acta Neuropathol. Berlin"}],"container-title":["Annales de G\u00e9n\u00e9tique"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003399504000607?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003399504000607?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T01:51:20Z","timestamp":1585878680000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003399504000607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["S0003399504000607"],"URL":"https:\/\/doi.org\/10.1016\/j.anngen.2004.07.005","relation":{},"ISSN":["0003-3995"],"issn-type":[{"value":"0003-3995","type":"print"}],"subject":[],"published":{"date-parts":[[2004,10]]}}}