{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T02:26:47Z","timestamp":1791512807427,"version":"4.3.4"},"reference-count":19,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,10]]},"abstract":"<jats:p>We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.<\/jats:p>","DOI":"10.1136\/jmg.34.10.798","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"798-804","source":"Crossref","is-referenced-by-count":937,"title":["Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study."],"prefix":"10.1136","volume":"34","author":[{"given":"A K","family":"Ryan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Goodship","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D I","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Philip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Seidel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Schuffenhauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Oechsler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Belohradsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Prieur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Aurias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F L","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Hatchwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"McKeown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F A","family":"Beemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Ignatius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A J","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Brueton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Br\u00f8ndum-Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P J","family":"Scambler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1136\/jmg.28.9.596","article-title":"Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise","volume":"28","author":"Lipson, A.H.; Yuille, D.; Angel, M.","year":"1991","unstructured":"Lipson AH, Yuille D, Angel M, et al. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. _7 Med Genet 1991;28:596-604.","journal-title":"_7 Med Genet"},{"key":"ref_2","first-page":"59","article-title":"DiGeorge syndrome and related syndromes associated with 22ql 1.2 deletions. A review","volume":"38","author":"Demczuk, S.; Aurias, A.","year":"1995","unstructured":"Demczuk S, Aurias A. DiGeorge syndrome and related syndromes associated with 22ql 1.2 deletions. A review. Ann Genet (Paris) 1995;38:59-76.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","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.; Burn, J.; Scambler, P.; Goodship, J.","year":"1993","unstructured":"Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. 7 Med Genet 1993;30:852-6.","journal-title":"7 Med Genet"},{"key":"ref_4","series-title":"Med Genet","first-page":"561","article-title":"Cerebellar atrophy in a patient with velocardiofacial syndrome","volume":"32","author":"Lynch, D.R.; McDonald-McGinn, D.M.; Zackai, E.H.","year":"1995","unstructured":"Lynch DR, McDonald-McGinn DM, Zackai EH, et al. Cerebellar atrophy in a patient with velocardiofacial syndrome. T Med Genet 1995;32:561-3."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ajmg.1320530320","article-title":"Cayler cardiofacial syndrome and del 22ql 1: part of the CATCH22 phenotype","volume":"53","author":"Giannotti, A.; Digilio, M.C.; Marino, B.; Mingarelli, R.; Dallapiccola, B.","year":"1994","unstructured":"Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B. Cayler cardiofacial syndrome and del 22ql 1: part of the CATCH22 phenotype. 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Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q 1I deletion. 7 Pediatr 1996;128:563-7."},{"key":"ref_10","first-page":"313","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. Am3rMed Genet 1993;45:313-19.","journal-title":"Am3rMed Genet"},{"key":"ref_11","article-title":"Chromosome 22qll deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and\/or mental disability. A survey based on the Danish Facial Cleft Register. Clin Genet","author":"Brondum-Nielsen, K.; Christensen, K.","unstructured":"Brondum-Nielsen K, Christensen K. Chromosome 22qll deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and\/or mental disability. A survey based on the Danish Facial Cleft Register. Clin Genet (in press)."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/BF00214179","article-title":"Excess of deletions of maternal origin in the DiGeorge\/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature","volume":"96","author":"Demczuk, S.; Levy, A.; Aubry, M.","year":"1995","unstructured":"Demczuk S, Levy A, Aubry M, et al. Excess of deletions of maternal origin in the DiGeorge\/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. 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Velocardiofacial anomaly in a mother and daughter: variability of the clinical phenotype. 7 Med Genet 1993;30:825-7.","journal-title":"7 Med Genet; Velocardiofacial anomaly in a mother and daughter: variability of the clinical phenotype"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.10.798","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:20:30Z","timestamp":1760728830000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.10.798"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,10]]},"references-count":19,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1997,10,1]]},"published-print":{"date-parts":[[1997,10]]}},"alternative-id":["10.1136\/jmg.34.10.798"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.10.798","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,10]]}}}