{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:10:03Z","timestamp":1792062603505,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4648,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Velo\u2010cardio\u2010facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or absent lymphoid tissue and T\u2010cell deficiency suggesting that these 2 conditions share a common pathogenesis. Here, we report the results of cytogenetic and molecular studies of 15 VCFS patients. High \u2010 resolution banding techniques detected an interstitial deletion of 22q11.21\u2010q11.23 in 3 patients. The remaining 12 patients had apparently normal chromosomes. Molecular analysis with probes from the DiGeorge Chromosome Region (DGCR) within 22q11 detected DNA deletions in 14 of 15 patients. In 2 families, deletions were detected in the affected parent as well as the propositus suggesting that the autosomal dominant transmission of VCFS is due to segregation of a deletion. Deletions of the same loci previously shown to be deleted in patients with DGC explains the overlapping phenotype of VCFS and the DGC and supports the hypothesis that the cause of these two disorders is the same. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440237","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:30Z","timestamp":1118506890000},"page":"261-268","source":"Crossref","is-referenced-by-count":300,"title":["Deletions and microdeletions of 22q11.2 in velo\u2010cardio\u2010facial syndrome"],"prefix":"10.1002","volume":"44","author":[{"given":"Deborah A.","family":"Driscoll","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy B.","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia L.","family":"Budarf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalie B.","family":"Goldberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Shprintzen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard M.","family":"Saal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Zonana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn C.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James T.","family":"Mascarello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282098"},{"key":"e_1_2_1_3_1","first-page":"244","article-title":"Partial monosomy 22pter\u2192q11 in a newborn with the clinical features of trisomy 13 syndrome","volume":"23","author":"Back E","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01245.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90190-P"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278938"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92264-3"},{"key":"e_1_2_1_8_1","first-page":"924","article-title":"A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11","volume":"50","author":"Driscoll DA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380415"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.4.225"},{"key":"e_1_2_1_11_1","unstructured":"FibisonWJ EmanuelBS BaleAE BudarfML BuetowKandMcBrideOW:A genetic map of 2q11 and its application to defining the critical region for DiGeorge syndrome (DGCR). (In preparation)"},{"key":"e_1_2_1_12_1","first-page":"A54","article-title":"Phenotypic overlap between cardio\u2010velo\u2010facial syndrome (VCF) and the DiGeorge sequence (DGS)","volume":"37","author":"Goldberg R","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","first-page":"605","article-title":"Cytogenetic findings in a prospective series of patients with DiGeorge anomaly","volume":"43","author":"Greenberg F","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80116-9"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250615"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90079-7"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320124"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370121"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90501-5"},{"key":"e_1_2_1_20_1","first-page":"56","article-title":"A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo\u2010cardio\u2010facial syndrome","volume":"15","author":"Shprintzen RJ","year":"1978","journal-title":"Cleft Palate J"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1542\/peds.67.2.167","article-title":"The velo\u2010cardio\u2010facial syndrome: A clinical and genetic analysis","volume":"67","author":"Shprintzen RJ","year":"1981","journal-title":"Pediatr"},{"key":"e_1_2_1_22_1","first-page":"A77","article-title":"The expanded velo\u2010cardio\u2010facial syndrome: additional features of the most common clefting syndrome","volume":"37","author":"Shprintzen RJ","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_23_1","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1542\/peds.85.4.526","article-title":"DiGeorge anomaly and velo\u2010cardio\u2010facial syndrome","volume":"85","author":"Stevens CA","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_1_24_1","first-page":"175","article-title":"Male\u2010to\u2010male transmission of the velo\u2010cardio\u2010facial syndrome: A case report and review of 60 cases","volume":"5","author":"Williams MA","year":"1985","journal-title":"J Craniofacial Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440237","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:58:12Z","timestamp":1698069492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9,15]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,9,15]]}},"alternative-id":["10.1002\/ajmg.1320440237"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440237","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9,15]]}}}