{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:36:16Z","timestamp":1787016976039,"version":"build-2736575974"},"reference-count":12,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,7]]},"abstract":"<jats:p>Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome.<\/jats:p>","DOI":"10.1136\/jmg.32.7.561","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"561-563","source":"Crossref","is-referenced-by-count":68,"title":["Cerebellar atrophy in a patient with velocardiofacial syndrome."],"prefix":"10.1136","volume":"32","author":[{"given":"D R","family":"Lynch","sequence":"first","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"}]},{"given":"D A","family":"Driscoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L A","family":"Whitaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K H","family":"Fischbeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1995,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1542\/peds.67.2.167","article-title":"The velocardiofacial syndrome: a clinical and genetic analysis","volume":"67","author":"Shprintzen, R.J.; Goldberg, R.; Young, D.; Wolford, L.","year":"1981","unstructured":"Shprintzen RJ, Goldberg R, Young D, Wolford L. The velocardiofacial syndrome: a clinical and genetic analysis. Pediatrics 1981;67: 167-72.","journal-title":"Pediatrics"},{"key":"ref_2","first-page":"207","article-title":"Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes","volume-title":"Phenotypic mapping ofDown syndrome and other aneuploid conditions","author":"Emanuel, B.S.; Driscoll, D.; Goldmuntz, E.","year":"1993","unstructured":"Emanuel BS, Driscoll D, Goldmuntz E, et al. Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. In: Epstein CJ, ed. Phenotypic mapping ofDown syndrome and other aneuploid conditions. New York: Wiley aiss, 1993:207-24."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/ajmg.1320450306","article-title":"Confirmation that the velocardiofacial 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 velocardiofacial 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_4","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320440237","article-title":"Deletions and microdeletions of 22qll.2 in velocardiofacial syndrome","volume":"44","author":"Driscoll, D.A.; Spinner, N.B.; Budarf, M.L.","year":"1993","unstructured":"Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22qll.2 in velocardiofacial syndrome. 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J Med Genet 1993;30:813-17.","journal-title":"J Med Genet"},{"key":"ref_7","series-title":"Proceedings of the Fourth International Symposium on Etiology and Morphogenesis of Congenital Heart Disease","article-title":"Detection of 22ql 1 deletions in patients with conotruncal cardiac malformations, DiGeorge, velocardiofacial and conotruncal anomaly face syndromes","author":"Driscoll, D.A.; Goldmuntz, E.; Emanuel, B.S.","year":"1995","unstructured":"Driscoll DA, Goldmuntz E, Emanuel BS. Detection of 22ql 1 deletions in patients with conotruncal cardiac malformations, DiGeorge, velocardiofacial and conotruncal anomaly face syndromes. Proceedings of the Fourth International Symposium on Etiology and Morphogenesis of Congenital Heart Disease, 1995."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/ajmg.1320420131","article-title":"Late onset psychosis in the velocardiofacial syndrome","volume":"42","author":"Shprintzen, R.J.; Goldberg, R.; Golding-Kushner, K.J.; Marion, R.W.","year":"1992","unstructured":"Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late onset psychosis in the velocardiofacial syndrome. Am JMed Genet 1992;42:141-2.","journal-title":"Am JMed Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.1320450307","article-title":"Velocardiofacial syndrome: a review of 120 patients","volume":"45","author":"Goldberg, R.; Motzkin, B.; Marion, R.W.; Scambler, P.J.; Shprintzen, R.J.","year":"1993","unstructured":"Goldberg R, Motzkin B, Marion RW, Scambler PJ, Shprintzen RJ. Velocardiofacial syndrome: a review of 120 patients. Am J Med Genet 1993;45:313-19.","journal-title":"Am J Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/ajmg.1320540204","article-title":"Brain anomalies in velo-cardio-facial syndrome","volume":"54","author":"Mitnick, R.J.; Bello, J.A.; Shprintzen, R.J.","year":"1994","unstructured":"Mitnick RJ, Bello JA, Shprintzen RJ. Brain anomalies in velo-cardio-facial syndrome. Am J Med Genet 1994;54: 100-6.","journal-title":"Am J Med Genet"},{"key":"ref_11","first-page":"1169","article-title":"Hereditary ataxia and related disorders","volume-title":"Diseases of the nervous system: clinical neurobiology","author":"Harding, A.E.","year":"1992","unstructured":"Harding AE. Hereditary ataxia and related disorders. In: Asbury AK, McKhann G, McDonald WI, eds. Diseases of the nervous system: clinical neurobiology. Philadelphia: Saunders, 1992;1169-78."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/j.1399-0004.1985.tb02284.x","article-title":"Velocardiofacial syndrome presenting as holoprosencephaly","volume":"27","author":"Wraith, J.E.; Super, M.; Watson, G.H.; Phillips, M.","year":"1985","unstructured":"Wraith JE, Super M, Watson GH, Phillips M. Velocardiofacial syndrome presenting as holoprosencephaly. 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