{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T17:58:13Z","timestamp":1793123893709,"version":"4.5.0"},"reference-count":19,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,5]]},"DOI":"10.1136\/jmg.31.5.423-b","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"423.3-424","source":"Crossref","is-referenced-by-count":29,"title":["Velocardiofacial syndrome and DiGeorge sequence."],"prefix":"10.1136","volume":"31","author":[{"given":"R J","family":"Shprintzen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1136\/jmg.30.10.801","article-title":"CATCH 22","volume":"30","author":"Hall, J.G.","year":"1993","unstructured":"Hall JG. CATCH 22. J Med Genet 1993;30: 801-2.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1136\/jmg.30.10.803","article-title":"DiGeorge syndrome: an historical review of clinical and cytogenetic features","volume":"30","author":"Greenberg, F.","year":"1993","unstructured":"Greenberg F. DiGeorge syndrome: an historical review of clinical and cytogenetic features. J Med Genet 1993;30:803-6.","journal-title":"J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1136\/jmg.30.10.807","article-title":"Microdeletions of chromosomal region 22ql 1 in patients with congenital conotruncal cardiac defects","volume":"30","author":"Goldmuntz, E.; Driscoll, D.; Budarf, M.L.","year":"1993","unstructured":"Goldmuntz E, Driscoll D, Budarf ML, et al. Microdeletions of chromosomal region 22ql 1 in patients with congenital conotruncal cardiac defects. J Med Genet 1993;30:807-12.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1136\/jmg.30.10.813","article-title":"Prevalence of 22ql 1 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis","volume":"30","author":"Driscoll, D.A.; Salvin, J.; Sellinger, B.","year":"1993","unstructured":"Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22ql 1 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993;30:813-17.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1136\/jmg.30.10.818","article-title":"Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134)","volume":"30","author":"Wadey, R.; Daw, S.; Wickremasinghe, A.","year":"1993","unstructured":"Wadey R, Daw S, Wickremasinghe A, et al. Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). J Med Genet 1993;30:818-21.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.30.10.822","article-title":"Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q 1","volume":"30","author":"Bum, J.; Takao, A.; Wilson, D.","year":"1993","unstructured":"Bum J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q 1. J Med Genet 1993;30:822-4.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1136\/jmg.30.10.825","article-title":"Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype","volume":"30","author":"Holder, S.E.; Winter, R.M.; Kamath, S.; Scambler, P.J.","year":"1993","unstructured":"Holder SE, Winter RM, Kamath S, Scambler PJ. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet 1993;30:825-7.","journal-title":"J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.30.10.852","article-title":"DiGeorge syndrome: part of CATCH 22","volume":"30","author":"Wilson, D.I.; Bum, J.; Scambler, P.; Goodship, J.","year":"1993","unstructured":"Wilson DI, Bum J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet 1993;30:852-6.","journal-title":"J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/S0022-3476(68)80241-0","article-title":"Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism","volume":"73","author":"Strong, W.B.","year":"1968","unstructured":"Strong WB. Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism. J Pediatr 1968;73:882-5.","journal-title":"J Pediatr"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1159\/000263173","article-title":"The syndrome of the congenitally shortened velum. The dual innervation of the soft palate","volume":"19","author":"Sedlackova, E.","year":"1967","unstructured":"Sedlackova E. The syndrome of the congenitally shortened velum. The dual innervation of the soft palate. Folia Phoniatr (Basel) 1967;19:441-3.","journal-title":"Folia Phoniatr (Basel)"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1542\/peds.67.2.167","article-title":"The velo-cardio-facial syndrome: a clinical and genetic analysis","volume":"67","author":"Shprintzen, R.J.; Goldberg, R.B.; Young, D.; Wolford, L.","year":"1981","unstructured":"Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981;67:167-72.","journal-title":"Pediatrics"},{"key":"ref_12","first-page":"356","article-title":"The occult submucous cleft palate","volume":"12","author":"Kaplan, E.N.","year":"1975","unstructured":"Kaplan EN. The occult submucous cleft palate. Cleft Palate J 1975;12:356-68.","journal-title":"Cleft Palate J"},{"key":"ref_13","first-page":"56","article-title":"A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome","volume":"15","author":"Shprintzen, R.J.; Goldberg, R.B.; Lewin, M.L.","year":"1978","unstructured":"Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978;15:56-62.","journal-title":"Cleft Palate J"},{"key":"ref_14","first-page":"753","article-title":"Phenotypic overlap between velo-cardio-facial syndrome and the DiGeorge sequence","volume":"28","author":"Goldberg, R.; Marion, R.; Borderon, M.; Wiznia, A.; Shprintzen, R.J.","year":"1985","unstructured":"Goldberg R, Marion R, Borderon M, Wiznia A, Shprintzen RJ. Phenotypic overlap between velo-cardio-facial syndrome and the DiGeorge sequence. Am J Hum Genet 1985;37:54A. 15 Shprintzen RJ. Reply from Dr Shprintzen: CHARGE vs velo-cardio-facial syndrome. Am J Med Genet 1987;28:753-5.","journal-title":"Am J Hum Genet; 37: 54A. 15 Shprintzen RJ. Reply from Dr Shprintzen: CHARGE vs velo-cardio-facial syndrome"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1542\/peds.85.4.526","article-title":"DiGeorge anomaly and velocardiofacial syndrome","volume":"85","author":"Stevens, C.A.; Carey, J.C.; Shigeoka, A.O.","year":"1990","unstructured":"Stevens CA, Carey JC, Shigeoka AO. DiGeorge anomaly and velocardiofacial syndrome. Pediatrics 1990;85:526-30.","journal-title":"Pediatrics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/ajmg.1320450306","article-title":"Velocardio-facial syndrome associated with haploinsufficiency of genes at chromosome 22ql 1","volume":"45","author":"Kelly, D.; Goldberg, R.; Wilson, D.","year":"1993","unstructured":"Kelly D, Goldberg R, Wilson D, et al. Velocardio-facial syndrome associated with haploinsufficiency of genes at chromosome 22ql 1. Am Jf Med Genet 1993;45:308-12.","journal-title":"Am Jf Med Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.1320450307","article-title":"Velo-cardio-facial syndrome: a review of 120 patients","volume":"45","author":"Goldberg, R.; Motzkin, B.; Marion, R.; Scambler, P.J.; Shprintzen, R.J.","year":"1993","unstructured":"Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 1993;45:313-19.","journal-title":"Am J Med Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/S0022-3476(05)81740-8","article-title":"Variable phenotypes in velocardiofacial syndrome with chromosomal deletion","volume":"123","author":"Motzkin, B.; Marion, R.; Goldberg, R.; Shprintzen, R.J.; Saenger, P.","year":"1993","unstructured":"Motzkin B, Marion R, Goldberg R, Shprintzen RJ, Saenger P. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediarr 1993;123:406-10.","journal-title":"J Pediarr"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320440237","article-title":"Deletions and microdeletions of 22qll.2 in velo-cardio-facial syndrome","volume":"44","author":"Driscoll, D.A.; Spinner, N.B.; Budarf, M.L.","year":"1992","unstructured":"Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22qll.2 in velo-cardio-facial syndrome. Am J Med Genet 1992;44:261-8.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.5.423-b","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:34:13Z","timestamp":1760736853000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.5.423-b"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5]]},"references-count":19,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1994,5,1]]},"published-print":{"date-parts":[[1994,5]]}},"alternative-id":["10.1136\/jmg.31.5.423-b"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.5.423-b","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,5]]}}}