{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:15:17Z","timestamp":1760832917446,"version":"build-2065373602"},"reference-count":51,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,5,1]]},"DOI":"10.1136\/jmg.37.5.389","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:34:46Z","timestamp":1027751686000},"page":"389-392","source":"Crossref","is-referenced-by-count":7,"title":["Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene<i>SALL1<\/i>"],"prefix":"10.1136","volume":"37","author":[{"given":"HANS","family":"KNOBLAUCH","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"GUNDULA","family":"THIEL","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SIGRID","family":"TINSCHERT","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HANNELORE","family":"K\u00d6RNER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CORNELIA","family":"TENNSTEDT","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"RABIH","family":"CHAOUI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00dcRGEN","family":"KOHLHASE","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CHRISTA","family":"DIXKENS","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"CRISTOPHER","family":"BLANCK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,5,1]]},"reference":[{"key":"2025101723394016000_37.5.389.1","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/BF00278910","article-title":"Partial monosomy of the long arm of chromosome 16: a distinct clinical entity?","volume":"46","author":"Fryns","year":"1979","journal-title":"Hum Genet"},{"key":"2025101723394016000_37.5.389.2","first-page":"119A","article-title":"Fragile sites on chromosome 16 and the 16q- syndrome.","volume":"34","author":"Brenholz","year":"1982","journal-title":"Am J Hum Genet"},{"key":"2025101723394016000_37.5.389.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.828"},{"key":"2025101723394016000_37.5.389.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.5.299"},{"key":"2025101723394016000_37.5.389.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370414"},{"key":"2025101723394016000_37.5.389.6","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/(SICI)1097-0223(199805)18:5<490::AID-PD281>3.0.CO;2-4","article-title":"Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones.","volume":"18","author":"Chen","year":"1998","journal-title":"Prenat Diagn"},{"key":"2025101723394016000_37.5.389.7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.88"},{"key":"2025101723394016000_37.5.389.8","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1038\/2151075a0","article-title":"Deletion of the long arm of chromosome 16 and an unexpected Duffy blood group phenotype reveal a possible autosomal linkage.","volume":"215","author":"Crawford","year":"1967","journal-title":"Nature"},{"key":"2025101723394016000_37.5.389.9","first-page":"39","article-title":"Multiple critical smallest region of overlap in monosomy 16q syndrome.","volume":"5","author":"Doco-Fenzy","year":"1994","journal-title":"Genet Couns"},{"key":"2025101723394016000_37.5.389.10","first-page":"365","article-title":"Sindroamele cromozomiale 16.","volume":"30","author":"Duca","year":"1981","journal-title":"Pediatria"},{"key":"2025101723394016000_37.5.389.11","first-page":"85","article-title":"Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation.","volume":"34","author":"Edelhoff","year":"1991","journal-title":"Ann Genet"},{"key":"2025101723394016000_37.5.389.12","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/BF00273010","article-title":"Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region.","volume":"67","author":"Elder","year":"1984","journal-title":"Hum Genet"},{"key":"2025101723394016000_37.5.389.13","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1159\/000131011","article-title":"Heterozygosity at the alpha-haptoglobin locus associated with a deletion 16q22-16qter.","volume":"22","author":"Ferguson-Smith","year":"1978","journal-title":"Cytogenet Cell Genet"},{"key":"2025101723394016000_37.5.389.14","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/ajmg.1320430311","article-title":"Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome.","volume":"43","author":"Fujiwara","year":"1992","journal-title":"Am J Med Genet"},{"key":"2025101723394016000_37.5.389.15","doi-asserted-by":"publisher","DOI":"10.1007\/BF00402162"},{"key":"2025101723394016000_37.5.389.16","first-page":"124","article-title":"Interstitial 16q deletion with typical dysmorphic syndrome.","volume":"24","author":"Fryns","year":"1981","journal-title":"Ann Genet"},{"key":"2025101723394016000_37.5.389.17","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1111\/j.1399-0004.1985.tb02287.x","article-title":"Recurrent de novo interstitial deletions of 16q in two mentally retarded sisters.","volume":"27","author":"Hoo","year":"1985","journal-title":"Clin Genet"},{"key":"2025101723394016000_37.5.389.18","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.5.308"},{"key":"2025101723394016000_37.5.389.19","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1007\/BF00286649","article-title":"Interstitial deletion for a region in the long arm of chromosome 16.","volume":"65","author":"Lin","year":"1983","journal-title":"Hum Genet"},{"key":"2025101723394016000_37.5.389.20","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(1997)73:2<180::AID-AJMG13>3.0.CO;2-Q"},{"key":"2025101723394016000_37.5.389.21","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1111\/j.1399-0004.1988.tb03464.x","article-title":"16q21 is critical for the 16q deletion syndrome.","volume":"33","author":"Naritomi","year":"1988","journal-title":"Clin Genet"},{"key":"2025101723394016000_37.5.389.22","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291426"},{"key":"2025101723394016000_37.5.389.23","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1159\/000132745","article-title":"Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsin B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16.","volume":"50","author":"Natt","year":"1989","journal-title":"Cytogenet Cell Genet"},{"key":"2025101723394016000_37.5.389.24","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1111\/j.1399-0004.1985.tb01223.x","article-title":"Monosomy 16q: a distinct syndrome.","volume":"28","author":"Rivera","year":"1985","journal-title":"Clin Genet"},{"key":"2025101723394016000_37.5.389.25","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1111\/j.1399-0004.1992.tb03249.x","article-title":"De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy.","volume":"42","author":"Schuffenhauer","year":"1992","journal-title":"Clin Genet"},{"issue":"6C","key":"2025101723394016000_37.5.389.26","first-page":"343","article-title":"A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16)(q22).","volume":"XIV","author":"Taysi","year":"1978","journal-title":"Birth Defects"},{"key":"2025101723394016000_37.5.389.27","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.4.330"},{"key":"2025101723394016000_37.5.389.28","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<371::AID-AJMG8>3.0.CO;2-W"},{"key":"2025101723394016000_37.5.389.29","first-page":"A127","article-title":"Heritable deletion of band 16q21 with normal phenotype relationship to late replicating DNA.","volume":"43","author":"Witt","year":"1988","journal-title":"Am J Hum Genet"},{"key":"2025101723394016000_37.5.389.30","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"2025101723394016000_37.5.389.31","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80302-0"},{"key":"2025101723394016000_37.5.389.32","first-page":"1203","article-title":"Comparative genomic hybridization of human malignant gliomas reveals multiple amplification sites and nonrandom chromosomal gains and losses.","volume":"144","author":"Schr\u00c3\u00b6ck","year":"1994","journal-title":"Am J Pathol"},{"key":"2025101723394016000_37.5.389.33","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"2025101723394016000_37.5.389.34","unstructured":"ISCN 1995 (1995) An international system for human cytogenetic nomenclature. ed Mitelman F (S Karger, Basel)."},{"key":"2025101723394016000_37.5.389.35","doi-asserted-by":"publisher","DOI":"10.1007\/s001120050137"},{"key":"2025101723394016000_37.5.389.36","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmg.36.2.89","article-title":"Townes-Brocks syndrome.","volume":"36","author":"Powell","year":"1999","journal-title":"J Med Genet"},{"key":"2025101723394016000_37.5.389.37","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180118"},{"key":"2025101723394016000_37.5.389.38","doi-asserted-by":"publisher","DOI":"10.1016\/S0194-5998(94)70588-7"},{"key":"2025101723394016000_37.5.389.39","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1097\/00019605-199701000-00010","article-title":"Townes-Brocks syndrome presenting as end stage renal failure.","volume":"6","author":"Newman","year":"1997","journal-title":"Clin Dysmorphol"},{"key":"2025101723394016000_37.5.389.40","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.7.457"},{"key":"2025101723394016000_37.5.389.41","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410102"},{"key":"2025101723394016000_37.5.389.42","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320610203"},{"key":"2025101723394016000_37.5.389.43","first-page":"A60","article-title":"Six patients with the Townes-Brocks syndrome including five familial cases with a pericentric inversion of chromosome 16.","volume":"41","author":"Friedman","year":"1987","journal-title":"Am J Hum Genet Suppl"},{"key":"2025101723394016000_37.5.389.44","first-page":"109","article-title":"Townes-Brocks syndrome in an infant with translocation t(5;16).","volume":"4","author":"Serville","year":"1993","journal-title":"Genet Couns"},{"key":"2025101723394016000_37.5.389.45","first-page":"100","article-title":"Townes syndrome: a distinct multiple malformation syndrome resembling VACTERL association.","volume":"25","author":"Hersch","year":"1986","journal-title":"Clin Genet"},{"key":"2025101723394016000_37.5.389.46","doi-asserted-by":"publisher","DOI":"10.1016\/0929-693X(96)81200-0"},{"key":"2025101723394016000_37.5.389.47","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1097\/00019605-199810000-00011","article-title":"Two cases of Townes-Brocks syndrome with previously undescribed anomalies.","volume":"7","author":"Marlin","year":"1998","journal-title":"Clin Dysmorphol"},{"key":"2025101723394016000_37.5.389.48","first-page":"459","article-title":"Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome.","volume":"45","author":"Gabrielli","year":"1993","journal-title":"Minerva Pediatr"},{"key":"2025101723394016000_37.5.389.49","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<134::AID-AJMG6>3.0.CO;2-X"},{"key":"2025101723394016000_37.5.389.50","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120403"},{"key":"2025101723394016000_37.5.389.51","first-page":"129","article-title":"Micropthalmia as part of the Townes (sic) syndrome.","volume":"4","author":"Fraser","year":"1985","journal-title":"Proc Greenwood Genet Centre"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.37.5.389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:39:56Z","timestamp":1760769596000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.37.5.389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,5,1]]},"references-count":51,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2000,5,1]]},"published-print":{"date-parts":[[2000,5,1]]}},"alternative-id":["10.1136\/jmg.37.5.389"],"URL":"https:\/\/doi.org\/10.1136\/jmg.37.5.389","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[2000,5,1]]}}}