{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:10:01Z","timestamp":1792062601411,"version":"4.4.0"},"reference-count":15,"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>DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.<\/jats:p>","DOI":"10.1136\/jmg.30.10.852","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"852-856","source":"Crossref","is-referenced-by-count":382,"title":["DiGeorge syndrome: part of CATCH 22."],"prefix":"10.1136","volume":"30","author":[{"given":"D I","family":"Wilson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Burn","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","first-page":"907","article-title":"A new concept of the cellular basis of immunity","volume":"67","author":"Cooper, M.D.; Peterson, R.D.A.; Good, R.A.","year":"1965","unstructured":"Cooper MD, Peterson RDA, Good RA. A new concept of the cellular basis of immunity. J7 Pediatr 1965;67:907-8."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF00278938","article-title":"A deletion in chromosome 22 can cause DiGeorge syndrome","volume":"57","author":"la Chapelle A, De; R, Herva; M, Koivisto; P, Aula","year":"1981","unstructured":"De la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981;57:253-6.","journal-title":"Hum Genet"},{"issue":"10","key":"ref_3","first-page":"201","article-title":"Microdeletions within 22ql 1 associated with sporadic and familial DiGeorge syndrome","volume":"1991","author":"Scambler, P.J.; Carey, A.H.; Wyse, R.K.H.","unstructured":"Scambler PJ, Carey AH, Wyse RKH, et al. Microdeletions within 22ql 1 associated with sporadic and familial DiGeorge syndrome. 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