{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:10:00Z","timestamp":1792062600914,"version":"4.4.0"},"reference-count":32,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,10]]},"abstract":"<jats:p>Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from 76 patients referred with a diagnosis of either DGS or VCFS to determine the prevalence of 22q11 deletions in these disorders. Using probes and cosmids from the DiGeorge critical region (DGCR), deletions of 22q11 were detected in 83% of DGS and 68% of VCFS patients by DNA dosage analysis, fluorescence in situ hybridisation, or by both methods. Combined with our previously reported patients, deletions have been detected in 88% of DGS and 76% of VCFS patients. The results of prenatal testing for 22q11 deletions by FISH in two pregnancies are presented. We conclude that FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion.<\/jats:p>","DOI":"10.1136\/jmg.30.10.813","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"813-817","source":"Crossref","is-referenced-by-count":375,"title":["Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis."],"prefix":"10.1136","volume":"30","author":[{"given":"D A","family":"Driscoll","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Salvin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Sellinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M L","family":"Budarf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D M","family":"McDonald-McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E H","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B S","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,10,1]]},"reference":[{"key":"ref_1","first-page":"113","article-title":"The DiGeorge anomaly as a de- Prevalence of 22ql 1 microdeletions in DiGeorge and velocardiofacial syndromes velopmental field defect","volume":"29","author":"Lammer, E.J.; Opitz, J.M.","year":"1986","unstructured":"Lammer EJ, Opitz JM. The DiGeorge anomaly as a de- Prevalence of 22ql 1 microdeletions in DiGeorge and velocardiofacial syndromes velopmental field defect. Am J Med Genet 1986;29:113-27.","journal-title":"Am J Med Genet"},{"key":"ref_2","first-page":"244","article-title":"Partial monosomy 22pter--11 in a newborn with the clinical features of trisomy 13 syndrome","volume":"23","author":"Back, E.; Stier, R.; Bohsen, N.; Adlung, A.; Hameister, H.","year":"1980","unstructured":"Back E, Stier R, Bohsen N, Adlung A, Hameister H. Partial monosomy 22pter--11 in a newborn with the clinical features of trisomy 13 syndrome. Ann Genet (Paris) 1980;23:244-88.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF00278938","article-title":"Aula 0. A deletion in chromosome 22 can cause DiGeorge syndrome","volume":"57","author":"la Chapelle A, De; R, Herva; M, Koivisto","year":"1981","unstructured":"De la Chapelle A, Herva R, Koivisto M, Aula 0. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981;57:253-6.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0022-3476(82)80116-9","article-title":"The association of the DiGeorge anomalad with partial monosomy of chromosome 22","volume":"101","author":"Kelley, R.I.; Zackai, E.H.; Emanuel, B.S.; Kistenmacher, M.; Greenberg, F.; Punnett, H.","year":"1982","unstructured":"Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett H. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. 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Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet 1988;43:605-1 1.","journal-title":"Am J Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/BF00282098","article-title":"DiGeorge syndrome and 22q1 1 rearrangements","volume":"74","author":"Augusseau, S.; Jouk, S.; Jalbert, P.; Prieur, M.","year":"1986","unstructured":"Augusseau S, Jouk S, Jalbert P, Prieur M. DiGeorge syndrome and 22q1 1 rearrangements. Hum Genet 1986;74:206.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1111\/j.1399-0004.1986.tb01245.x","article-title":"Thymic deficiency in an infant with a chromosome t(l8; 22)t(ql2.2; p 11.2)pat arrangement","volume":"29","author":"Bowen, P.; Pabst, H.; Berry, D.; Collins-Nakai, R.; Hoo, J.J.","year":"1986","unstructured":"Bowen P, Pabst H, Berry D, Collins-Nakai R, Hoo JJ. Thymic deficiency in an infant with a chromosome t(l8;22)t(ql2.2;p 11.2)pat arrangement. Clin Genet 1986;29: 174-7.","journal-title":"Clin Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1002\/ajmg.1320380415","article-title":"DiGeorge sequence in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction","volume":"38","author":"El-Fouly, M.H.; Higgins, J.V.; Kapur, S.; Matisoff, D.N.; CostaFox, M.","year":"1991","unstructured":"El-Fouly MH, Higgins JV, Kapur S, Matisoff DN, CostaFox M. DiGeorge sequence in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction. 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J Pediatr 1986;109:231-41.","journal-title":"J Pediatr"},{"key":"ref_14","first-page":"888","article-title":"Molecular studies of DiGeorge syndrome","volume":"46","author":"Fibison, W.J.; Budarf, M.; McDermid, H.; Greenberg, F.; Emanuel, B.S.","year":"1990","unstructured":"Fibison WJ, Budarf M, McDermid H, Greenberg F, Emanuel BS. Molecular studies of DiGeorge syndrome. AmJ Hum Genet 1990;46:888-95.","journal-title":"AmJ Hum Genet"},{"key":"ref_15","first-page":"924","article-title":"A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22ql 1","volume":"50","author":"Driscoll, D.A.; Budarf, M.L.; Emanuel, B.S.","year":"1992","unstructured":"Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22ql 1. Am 7 Hum Genet 1992;50:924-33.","journal-title":"Am 7 Hum Genet"},{"key":"ref_16","first-page":"964","article-title":"Molecular genetic study of the frequency of monosomy 22ql 1 in DiGeorge syndrome","volume":"51","author":"Carey, A.H.; Kelly, D.; Halford, S.","year":"1992","unstructured":"Carey AH, Kelly D, Halford S, et al. Molecular genetic study of the frequency of monosomy 22ql 1 in DiGeorge syndrome. Am J Hum Genet 1992;51:964-70.","journal-title":"Am J Hum Genet"},{"key":"ref_17","article-title":"Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. In: Phenotypic analysis of Down syndrome and other aneuploid conditions","author":"Emanuel, B.S.; Driscoll, D.; Goldmuntz, E.","unstructured":"Emanuel BS, Driscoll D, Goldmuntz E, et al. Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. In: Phenotypic analysis of Down syndrome and other aneuploid conditions. New York: Wiley Liss (in press)."},{"key":"ref_18","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. Deletions and microdeletions of 22ql 1.2 in velo-cardio-facial syndrome. Am J Med Genet 1992;44:261-8.","journal-title":"Am J Med Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/ajmg.1320450306","article-title":"Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome 22","volume":"45","author":"Kelly, D.; Goldberg, R.; Wilson, D.","year":"1993","unstructured":"Kelly D, Goldberg R, Wilson D, et al. Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome 22. Am J Med Genet 1993;45:308-12.","journal-title":"Am J Med Genet"},{"key":"ref_20","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_21","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. 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Am J Hum Genet 1985;37:A77.","journal-title":"Am J Hum Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/ajmg.1320390220","article-title":"DiGeorge anomaly associated with lOp deletion","volume":"39","year":"1991","unstructured":"Monaco G, Pignata C, Rossi E, Mascellaro 0, Cocozza S, Ciccimarra F. DiGeorge anomaly associated with lOp deletion. AmJ Med Gener 1991;39:215-16.","journal-title":"AmJ Med Gener"},{"key":"ref_25","article-title":"The DiGeorge anomaly with renal agenesis in infants of mothers with diabetes","author":"Wilson, T.A.; Blethen, S.L.; Vallone, A.","unstructured":"Wilson TA, Blethen SL, Vallone A, et al. The DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am J Med Genet (in press).","journal-title":"Am J Med Genet"},{"key":"ref_26","first-page":"707","article-title":"Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization","volume":"49","author":"Kuwano, A.; Ledbetter, S.A.; Dobyns, W.B.; Emanuel, B.S.; Ledbetter, D.H.","year":"1991","unstructured":"Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am Y Hum Genet 1991;49:707-14.","journal-title":"Am Y Hum Genet"},{"key":"ref_27","first-page":"1235","article-title":"Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation","volume":"49","author":"Altherr, M.R.; Bengtsson, U.; Elder, F.F.B.","year":"1991","unstructured":"Altherr MR, Bengtsson U, Elder FFB, et al. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation. 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Am J Cardiol 1992;70:557.","journal-title":"Am J Cardiol"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1136\/jmg.30.10.807","article-title":"Microdeletions of chromosomal region 22q I1 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 22q I1 in patients with congenital conotruncal cardiac defects. J Med Genet 1993;30:807-12.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.10.813","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:19:28Z","timestamp":1760764768000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.10.813"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10]]},"references-count":32,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1993,10,1]]},"published-print":{"date-parts":[[1993,10]]}},"alternative-id":["10.1136\/jmg.30.10.813"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.10.813","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10]]}}}