{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:06:49Z","timestamp":1788869209553,"version":"build-2803163510"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001868","name":"National Science Council","doi-asserted-by":"crossref","award":["NSC-99-2628-B-195-001-MY3"],"award-info":[{"award-number":["NSC-99-2628-B-195-001-MY3"]}],"id":[{"id":"10.13039\/501100001868","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001868","name":"National Science Council","doi-asserted-by":"crossref","award":["NSC-101-2314-B-195-011-MY3"],"award-info":[{"award-number":["NSC-101-2314-B-195-011-MY3"]}],"id":[{"id":"10.13039\/501100001868","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Mackay Memorial Hospital, Taipei, Taiwan","award":["MMH-E-101-04"],"award-info":[{"award-number":["MMH-E-101-04"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1016\/j.gene.2012.12.052","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T06:46:48Z","timestamp":1356158808000},"page":"132-137","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal diagnosis of partial trisomy 3q (3q27.3\u2192qter) and partial monosomy 14q (14q31.3\u2192qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints"],"prefix":"10.1016","volume":"516","author":[{"given":"Chih-Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao-Lung","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Schu-Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peih-Shan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Wei","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Lin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Feng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2012.12.052_bb0005","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ajmg.a.31042","article-title":"Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis","volume":"140A","author":"Battaglia","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0010","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1002\/humu.20771","article-title":"Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1\/GTL2 gene cluster","volume":"29","author":"Buiting","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2012.12.052_bb0015","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S1028-4559(09)60343-0","article-title":"Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes","volume":"48","author":"Chen","year":"2009","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"10.1016\/j.gene.2012.12.052_bb0020","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/S1028-4559(10)60026-5","article-title":"Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array CGH in pregnancy with abnormal ultrasound findings detected in late second and third trimesters","volume":"49","author":"Chen","year":"2010","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"10.1016\/j.gene.2012.12.052_bb0025","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.tjog.2010.05.001","article-title":"Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations","volume":"50","author":"Chen","year":"2011","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"10.1016\/j.gene.2012.12.052_bb0030","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.tjog.2011.02.001","article-title":"Unbalanced reciprocal translocations at amniocentesis","volume":"50","author":"Chen","year":"2011","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"10.1016\/j.gene.2012.12.052_bb0035","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.tjog.2011.10.015","article-title":"Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy","volume":"50","author":"Chen","year":"2011","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"10.1016\/j.gene.2012.12.052_bb0040","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.tjog.2012.01.019","article-title":"Rapid aneuploidy diagnosis of partial trisomy 7q (7q34\u2192qter) and partial monosomy 10q (10q26.12\u2192qter) by array comparative genomic hybridization using uncultured amniocytes","volume":"51","author":"Chen","year":"2012","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"10.1016\/j.gene.2012.12.052_bb0045","doi-asserted-by":"crossref","first-page":"104","DOI":"10.3928\/0191-3913-20060301-11","article-title":"Ocular manifestations of chromosome 14 terminal deletion","volume":"43","author":"Chung","year":"2006","journal-title":"J. Pediatr. Ophthalmol. Strabismus"},{"key":"10.1016\/j.gene.2012.12.052_bb0050","first-page":"199","article-title":"Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype","volume":"22","author":"Dundar","year":"2011","journal-title":"Genet. Couns."},{"key":"10.1016\/j.gene.2012.12.052_bb0055","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1002\/ajmg.a.35256","article-title":"A phenotype map for 14q32.3 terminal deletions","volume":"158A","author":"Engels","year":"2012","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0060","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1034\/j.1399-0004.2002.620411.x","article-title":"A new case of dup(3q) syndrome due to a pure duplication of 3qter","volume":"62","author":"Faas","year":"2002","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0065","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ajmg.1320370409","article-title":"A child with multiple congenital anomalies and karyotype 46, XY, del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome","volume":"37","author":"Gorski","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0070","doi-asserted-by":"crossref","first-page":"2522","DOI":"10.1002\/ajmg.a.33058","article-title":"\u201cEssentially\u201d pure trisomy 3q27\u2192qter: further delineation of the partial trisomy 3q phenotype","volume":"149A","author":"Grossmann","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0075","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.35289","article-title":"A child with an inherited 0.31-Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome","author":"Holder","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2012.12.052_bb0080","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1038\/ejhg.2008.90","article-title":"Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype","volume":"16","author":"Hosoki","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0085","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1136\/jmg.20.2.147","article-title":"Distal monosomy 14 not associated with ring formation","volume":"20","author":"Hreidarsson","year":"1983","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0090","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1097\/MCD.0b013e32834e92b8","article-title":"History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?","volume":"21","author":"Jezela-Stanek","year":"2012","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.gene.2012.12.052_bb0095","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.gene.2012.01.070","article-title":"Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia","volume":"498","author":"Jung","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.gene.2012.12.052_bb0100","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/ng.2007.56","article-title":"Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes","volume":"40","author":"Kagami","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0105","doi-asserted-by":"crossref","first-page":"e1000992","DOI":"10.1371\/journal.pgen.1000992","article-title":"The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers","volume":"6","author":"Kagami","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0110","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.anngen.2004.03.006","article-title":"Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting","volume":"47","author":"Kotzot","year":"2004","journal-title":"Ann. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0115","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/uog.5133","article-title":"Prenatal testing for uniparental disomy: indications and clinical relevance","volume":"31","author":"Kotzot","year":"2008","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"10.1016\/j.gene.2012.12.052_bb0120","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/ajmg.1320340415","article-title":"Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14) as a common mechanism","volume":"34","author":"Masada","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0125","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1002\/ajmg.a.31438","article-title":"Terminal 14q32.33 deletion: genotype\u2013phenotype correlation","volume":"140A","author":"Maurin","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0130","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/ajmg.a.30462","article-title":"14q32.3 deletion syndrome with autism","volume":"133A","author":"Merritt","year":"2005","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0135","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<443::AID-AJMG2>3.0.CO;2-Y","article-title":"Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p","volume":"80","author":"Meschede","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0140","doi-asserted-by":"crossref","first-page":"181","DOI":"10.4161\/epi.3.4.6550","article-title":"Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14","volume":"3","author":"Ogata","year":"2008","journal-title":"Epigenetics"},{"key":"10.1016\/j.gene.2012.12.052_bb0145","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1136\/jmg.34.6.515","article-title":"Delineation of 14q32.3 deletion syndrome","volume":"34","author":"Ortigas","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0150","first-page":"144","article-title":"Dysmorphiesyndrome Genetik und Klinik","author":"Rittinger","year":"2002"},{"key":"10.1016\/j.gene.2012.12.052_bb0155","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1002\/ajmg.a.30942","article-title":"FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures","volume":"138A","author":"Schlade-Bartusiak","year":"2005","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0160","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/ajmg.a.32752","article-title":"A child with terminal 14q deletion syndrome: consideration of genotype\u2013phenotype correlations","volume":"149A","author":"Schlade-Bartusiak","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0165","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/sj.ejhg.5201977","article-title":"Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia","volume":"16","author":"Schneider","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0170","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1136\/jmg.27.4.261","article-title":"Terminal deletion (14)(q32.3): a new case","volume":"27","author":"Telford","year":"1990","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0175","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/ajmg.10207","article-title":"Further delineation of the chromosome 14q terminal deletion syndrome","volume":"110","author":"van Karnebeek","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0180","first-page":"171","article-title":"A further case of terminal deletion (14)(q32.2) in a child with mild dysmorphic features","volume":"35","author":"Wang","year":"1992","journal-title":"Ann. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0185","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/BF00223859","article-title":"Molecular analysis redefines three human chromosome 14 deletions","volume":"95","author":"Wintle","year":"1995","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0190","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/1471-2350-11-72","article-title":"Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay\/mental retardation","volume":"11","author":"Wu","year":"2010","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0195","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1136\/jmg.26.2.130","article-title":"A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation","volume":"26","author":"Yen","year":"1989","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2012.12.052_bb0200","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1399-0004.2008.01116.x","article-title":"Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype","volume":"75","author":"Zechner","year":"2009","journal-title":"Clin. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912015806?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912015806?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,7,19]],"date-time":"2020-07-19T06:14:40Z","timestamp":1595139280000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111912015806"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["S0378111912015806"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2012.12.052","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]}}}