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Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases.<\/jats:p>","DOI":"10.1136\/jmg.30.10.822","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"822-824","source":"Crossref","is-referenced-by-count":215,"title":["Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11."],"prefix":"10.1136","volume":"30","author":[{"given":"J","family":"Burn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Takao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Cross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Momma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Wadey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Scambler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Goodship","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320440237","article-title":"Deletions and microdeletions of 22ql 1.2 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. 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Cardiovascular malformations in the conotruncal anomaly face syndrome. In: Doyle EF, Engle MA, Gersony WM, et al, eds. Pediatric cardiology. Proceedings of the second world congress. New York: Springer-Verlag, 1985:926-28."},{"key":"ref_4","first-page":"957","article-title":"A prospective cytogenetic study of 36 cases of DiGeorge syndrome","volume":"51","author":"Wilson, D.I.; Cross, I.E.; Goodship, J.A.","year":"1992","unstructured":"Wilson DI, Cross IE, Goodship JA, et al. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am Hum Genet 1992;51:957-63.","journal-title":"Am Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.30.10.852","article-title":"Syndrome of the month. DiGeorge syndrome: part of CATCH 22","volume":"30","author":"Wilson, D.I.; Burn, J.; Scambler, P.; Goodship, J.","year":"1993","unstructured":"Wilson DI, Burn J, Scambler P, Goodship J. Syndrome of the month. DiGeorge syndrome: part of CATCH 22. 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