Publication Cover
Child Neuropsychology
A Journal on Normal and Abnormal Development in Childhood and Adolescence
Volume 11, 2005 - Issue 1
644
Views
35
CrossRef citations to date
0
Altmetric
Original Articles

22q11.2 Deletion Syndrome: Genetics, Neuroanatomy and Cognitive/Behavioral Features Keywords

, , , &
Pages 5-19 | Published online: 16 Feb 2007

References

  • Akil , M. , Kolachana , B. , Rothmond , D. , Hyde , T. , Weinberger , D. and Kleinman , J. 2003 . Catechol-O-methyltransferase genotype and dopamine regulation in the human brain. . Journal of Neuroscience , 23 : 2008 – 2013 . [PUBMED] [INFOTRIEVE]
  • Arnold , P. D. , Siegel-Bartelt , J. , Cytrynbaum , C. , Teshima , I. and Schachar , R. 2001 . Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders. . American Journal of Medical Genetics (Neuropsychiatric Genetics) , 105 : 354 – 362 . [CROSSREF]
  • Bassett , A. S. and Chow , E. W. C. 1999 . 22q11 deletion syndrome: A genetic subtype of schizophrenia. . Biological Psychiatry , 46 : 882 – 891 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Bingham , P. M. , Zimmerman , R. A. , McDonald-McGinn , D. , Driscoll , D. , Emanuel , B. S. and Zackai , E. 1997 . Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. . American Journal of Medical Genetics (Neuropsychiatric Genetics) , 74 : 538 – 543 . [CSA] [CROSSREF]
  • Carlson , C. , Papolos , D. , Pandita , R. K. , Faedda , G. L. , Veit , S. and Goldberg , R. 1997 . Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. . American Journal of Human Genetics , 60 : 851 – 859 . [PUBMED] [INFOTRIEVE] [CSA]
  • Cayler , G. G. 1969 . Cardiofacial syndrome. Congenital heart disease and facial weakness: a hitherto unrecognized association. . Archives of Disease in Childhood , 44 : 69 – 75 . [PUBMED] [INFOTRIEVE]
  • Chow , E. W. , Mikulis , D. J. , Zipursky , R. B. , Scutt , L. E. and Weksberg , R. 1999 . Qualitative MRI findings in adults with 22q11 Deletion Syndrome and schizophrenia. . Biological Psychiatry , 46 : 1436 – 1442 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Chow , E. W. , Zipursky , R. B. , Mikulis , D. J. and Bassett , A. S. 2002 . Structural brain abnormalities in patients with schizophrenia and 22q11 Deletion Syndrome. . Biological Psychiatry , 51 : 208 – 215 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Cummings , J. L. 1993 . Frontal-subcortical circuits and human behavior. . Archives of Neurology , 50 : 873 – 880 . [PUBMED] [INFOTRIEVE]
  • D’Antonio , L. L. , Scherer , N. J. , Miller , L. L. , Kalbfleisch , J. H. and Bartley , J. A. 2001 . Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. . Cleft Palate and Craniofacial Journal , 38 : 455 – 467 . [CROSSREF]
  • Driscoll , D. A. , Budarf , M. L. and Emanuel , B. S. 1992 . A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. . American Journal of Human Genetics , 50 : 924 – 933 . [PUBMED] [INFOTRIEVE] [CSA]
  • du Montcel , S. T. , Mendizabal , H. , Ayme , S. , Levy , A. and Philip , N. 1996 . Prevalence of 22q11 microdeletion. . Journal of Medical Genetics , 33 : 719 [CSA]
  • Dunham , I. , Collins , J. , Wadey , R. and Scambler , P. 1992 . Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. . Lancet , 340 : 1361 – 1362 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Edelmann , L. , Pandita , R. K. , Spiteri , E. , Funke , B. , Goldberg , R. , Palanisamy , N. , Chaganti , R. S. K. , Magenis , E. , Shprintzen , R. J. and Morrow , B. E. 1999 . A common molecular basis for rearrangement disorders on chromosome 22q11. . Human Molecular Genetics , 8 : 1157 – 1167 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Egan , M. F. and Weinberger , D. R. 2001 . Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. . Proceedings of the National Academy of Sciences , 98 : 6917 – 6922 . [CSA] [CROSSREF]
  • Einfeld , S. L. and Tonge , B. J. 1996 . Population prevalence of psychopathology in children and adolescents with intellectual disability: II. Epidemiological findings. . Journal of Intellectual Disabilities Research , 40 : 99 – 109 . [CSA] [CROSSREF]
  • Eliez , S. , Atonarakis , S. E. , Morris , M. A. , Dahoun , S. P. and Reiss , A. L. 2001 . Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome. . Archives of General Psychiatry , 58 : 64 – 68 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Eliez , S. , Barnea-Goraly , N. , Schmitt , J. E. , Liu , Y. and Reiss , A. L. 2002 . Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2). . Biological Psychiatry , 52 : 68 – 70 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Eliez , S. , Schmitt , J. E. , White , C. D. and Reiss , A. L. 2000 . Children and adolescents with velocardiofacial syndrome: A volumetric MRI study. . American Journal of Psychiatry , 157 : 409 – 415 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Feinstein , C. , Eliez , S. , Blasey , C. and Reiss , A. L. 2001 . Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: Usefulness as phenotypic indicators of schizophrenia risk. . Biological Psychiatry , 15 : 312 – 318 .
  • Funke , B. , Saint-Jore , B. , Puech , A. , Sirotkin , H. , Edelmann , L. , Carlson , C. , Raft , S. , Pandita , R. K. , Kucherlapati , R. , Skoultchi , A. and Morrow , B. E. 1997 . Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for velo-cardio-facial syndrome/DGS on 22q11. . Genomics , 46 : 364 – 372 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Gerdes , M. , Solot , C. , Wang , P. P. , Moss , E. , La Rossa , D. and Randall , P. 1999 . Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. . American Journal of Medical Genetics , 85 : 127 – 133 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Glaser , B. , Mumme , D. L. , Blasey , C. , Morris , M. A. , Dahoun , S. P. , Antonarakis , S. E. , Reiss , A. and Eliez , S. 2002 . Language skills in children with velocardiofacial syndrome (deletion 22q11.2). . Journal of Pediatrics , 140 : 753 – 758 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Gogos , J. A. , Santha , M. , Takacs , Z. , Beck , K. D. , Luine , V. , Lucas , L. R. , Nadler , J. V. and Karayiorgou , M. 1999 . The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. . Nature Genetics , 21 : 434 – 439 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Goldberg , R. , Motzkin , B. , Marion , R. , Scambler , P. J. and Shprintzen , R. J. 1993 . Velo-cardio-facial syndrome: A review of 120 patients. . American Journal of Medical Genetics , 45 : 313 – 319 . [PUBMED] [INFOTRIEVE]
  • Golding-Kushner , K. J. , Weller , G. and Shprintzen , R. J. 1985 . Velo-cardio-facial syndrome: Language and psychological profiles. . Journal of Craniofacial and GeneticDevelopmental Biology , 5 : 259 – 266 .
  • Goldman-Rakic , P. 1987 . The Handbook of Physiology , Edited by: Plum , F. and Mountcastle , V. Vol. V , 373 – 417 . Bethesda, MD : American Physiological Society. .
  • Goldman-Rakic , P. S. 1998 . The prefrontal landscape: Implications of functional architecture for understanding human mentation and the central executive. , Oxford : Oxford University Press. .
  • Graf , W. D. , Unis , A. S. , Yates , C. M. , Sulzbacher , S. , Dinulos , M. B. , Jack , R. M. , Dugaw , K. A. , Paddock , M. N. and Parson , W. W. 2001 . Catecholamines in patients with 22q11.2 Deletion Syndrome and the low-activity COMT polymorphism. . Neurology , 57 : 410 – 416 . [PUBMED] [INFOTRIEVE] [CSA]
  • Hans , S. L. , Marcus , J. , Nuechterlein , K. H. , Asarnow , R. F. , Styr , B. and Auerbach , J. G. 1999 . Neurobehavioral deficits at adolescence in children at risk for schizophrenia. . Archives of General Psychiatry , 56 : 741 – 748 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Kaplan , E. N. 1975 . The occult submucous cleft palate. . Cleft Palate Journal , 12 : 356 – 368 . [PUBMED] [INFOTRIEVE]
  • Karayiorgou , M. , Morris , M. A. , Morrow , B. , Shprintzen , R. J. , Goldberg , R. and Borrow , J. 1995 . Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. . Proceedings of the National Academy of Science , 92 : 7612 – 7616 . [CSA]
  • Kates , W. R. , Burnette , C. P. , Bessette , B. A. , Folley , B. S. , Strunge , L. A. , Jabs , E. W. and Pearlson , G. D. 2004 . Frontal-caudate alterations in velocardiofacial syndrome (deletion 22q11.2). . Journal of Child Neurology. ,
  • Kates , W. , Burnette , C. , Jabs , E. , Rutberg , J. , Murphy , A. and Grados , M. 2001 . Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis. . Biological Psychiatry , 49 : 677 – 685 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Kinouchi , A. , Mori , K. , Ando , M. and Takao , A. 1976 . Facial appearance of patients with conotruncal anomalies. . Pediatrics Japan , 17 : 84 – 87 .
  • Kretschmer , R. , Say , B. , Brown , D. and Rosen , F. S. 1968 . Congenital aplasia of the thymus gland (DiGeorge’s syndrome). . New England Journal of Medicine , 279 : 1295 – 1301 . [PUBMED] [INFOTRIEVE]
  • Lachman , H. M. , Morrow , B. , Shprintzen , R. J. , Veit , S. , Parsia , S. S. , Faedda , G. , Goldberg , R. , Kucherlapati , R. and Papolos , D. F. 1996 . Association of codon 108/158 catechol-o-methyl transferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. . American Journal of Medical Genetics , 67 : 468 – 472 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Levy , R. and Goldman-Rakic , P. S. 2000 . Segregation of working memory functions within the dorsolateral prefrontal cortex. . Experimental Brain Research , 133 : 23 – 32 . [CSA] [CROSSREF]
  • Lipson , A. H. , Yuille , D. , Angel , M. , Thompson , P. G. , Vandervoord , J. G. and Beckenham , E. J. 1991 . Velo-cardio-facial (Shprintzen) syndrome: An important syndrome for the dysmorphologist to recognize. . Journal of Medical Genetics , 28 : 596 – 604 . [PUBMED] [INFOTRIEVE] [CSA]
  • Mega , M. S. and Cummings. , J. L. 1994 . Frontal-subcortical circuits and neuropsychiatric disorders. . Journal of Neuropsychiatry and Clinical Neuroscience , 6 : 358 – 370 . [CSA]
  • Merscher , S. , Funke , B. , Epstein , J. A. , Heyer , J. , Puech , A. , Lu , M. M. , Xavier , R. J. , Demay , M. B. , Russell , R. G. , Factor , S. , Tokooya , K. , Jore , B. S. , Lopez , M. , Pandita , R. K. , Lia , M. , Carrion , D. , Xu , H. , Schorle , H. , Kobler , J. B. , Scambler , P. , Wynshaw-Boris , A. , Skoultchi , A. I. , Morrow , B. E. and Kucherlapati , R. 2001 . TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. . Cell , 104 : 619 – 629 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Middleton , F. A. and Strick , P. L. 2000 . Basal ganglia and cerebellar loops: Motor and cognitive circuits. . Brain Research Reviews , 31 : 236 – 250 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Mitnick , R. , Bello , J. and Shprintzen , R. 1994 . Brain anomalies in velo-cardio-facial syndrome. . American Journal of Medical Genetics , 54 : 100 – 106 . [PUBMED] [INFOTRIEVE]
  • Momma , K. , Kondo , C. , Matsuoka , R. and Takao , A. 1996 . Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal heart anomaly face syndrome. . American Journal of Cardiology , 78 : 591 – 594 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Moss , E. M. , Batshaw , M. L. , Solot , C. B. , Gerdes , M. , McDonald-McGinn , D. M. , Driscoll , D. A. , Emanuel , B. S. , Zackai , E. H. and Wang , P. P. 1999 . Psychoeducational profile of the 22q11 microdeletion: A complex pattern. . Journal of Pediatrics , 134 : 193 – 198 . [PUBMED] [INFOTRIEVE]
  • Murphy , K. C. 2002 . Schizophrenia and velo-cardio-facial syndrome. . Lancet , 359 : 426 – 430 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Murphy , K. C. , Jones , L. A. and Owen , M. J. 1999 . High rates of schizophrenia in adults with velo-cardio-facial syndrome. . Archives of General Psychiatry , 56 : 940 – 945 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Papolos , D. F. , Faedda , G. L. , Veit , S. , Goldberg , R. , Morrow , B. and Kucherlapati , R. 1996 . Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? . American Journal of Psychiatry , 153 : 1541 – 1547 . [PUBMED] [INFOTRIEVE]
  • Pearlson , G. D. , Barta , P. E. , Powers , R. E. , Menon , R. R. , Richards , S. S. , Aylward , E. H., , Federman , E. B. , Chase , G. A. , Petty , R. G. and Tien , A. Y. 1996 . Ziskind-Somerfeld Research Award 1996. Medial and superior temporal gyral volumes and cerebral asymmetry in schizophrenia versus bipolar disorder. . Biological Psychiatry , 41 : 1 – 14 . [CSA] [CROSSREF]
  • Pulver , A. E. , Nestadt , G. , Goldberg , R. , Shprintzen , R. J. , Lamacz , M. , Wolyniec , P. S. , Morrow , B. , Karayiorgou , M. , Antonarakis , S. E. , Housman , D. and Kucherlapati , R. 1994 . Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. . Journal of Nervous and Mental Disease , 182 : 476 – 478 . [PUBMED] [INFOTRIEVE] [CSA]
  • Rourke , B. P. 1989 . Nonverbal learning disabilities: The syndrome and the model. , New York : Guilford Press. .
  • Ryan , A. K. , Goodship , J. A. , Wilson , D. I. , Philip , N. , Levy , A. and Seidel , H. 1997 . Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. . Journal of Medical Genetics , 34 : 798 – 804 . [PUBMED] [INFOTRIEVE] [CSA]
  • Scambler , P. J. , Kelly , D. , Lindsay , E. , Williamson , R. , Goldberg , R. , Shprintzen , R. J. , Wilson , D. , Goodship , J. , Cross , I. and Burn , J. 1992 . Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. . Lancet , 339 : 1138 – 1139 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Scherer , N. J. 1999 . Early speech and language development in children with velocardiofacial syndrome. . American Journal of Medical Genetics , 88 : 714 – 723 . [PUBMED] [INFOTRIEVE]
  • Sedlačková , E. 1955 . The syndrome of the congenitally shortening of the soft palate. . Cas Lek Ces , 94 : 1304 – 1307 .
  • Sedlačková , E. 1967 . The syndrome of the congenitally shortened velum: The dual innervation of the soft palate. . Folia phoniatrica , 19 : 441 – 450 .
  • Shaikh , T. H. , Kurahashi , H. and Saitta , S. C. 2000 . Chromosome 22–specific low copy repeats and the 22q11.2 Deletion Syndrome: Genomic organization and deletion endpoint analysis. . Human Molecular Genetics , 9 : 489 – 501 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Shenton , M. E. , Dickey , C. C. , Frumin , M. and McCarley , R. W. 2001 . A review of MRI findings in schizophrenia. . Schizophrenia Research , 49 : 1 – 52 . [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
  • Shprintzen , R. J. 2000 . Velo-cardio-facial syndrome: A distinctive behavioral phenotype. . Mental Retardation & Developmental Disabilities Research Review , 6 : 142 – 147 . [CSA] [CROSSREF]
  • Shprintzen , R. J. , Goldberg , R. , Golding-Kushner , K. J. and Marion , R. W. 1992 . Late-onset psychosis in the velo-cardio-facial syndrome. . American Journal of Medical Genetics , 42 : 141 – 142 . [PUBMED] [INFOTRIEVE]
  • Shprintzen , R. J. , Goldberg , R. B. , Lewin , M. L. , Sidoti , E. J. , Berkman , M. D. , Argamaso , R. V. and Young , D. 1978 . A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome. . Cleft Palate Journal , 15 : 56 – 62 . [PUBMED] [INFOTRIEVE]
  • Simon , T. J. , Bearden , C. E. , Moss , E. M. , McDonald-McGinn , D. , Zackai , E. and Wang , P. P. 2002 . Cognitive development in 22q11.2 Deletion Syndrome. . Progress in Pediatric Cardiology , 15 : 109 – 117 . [CROSSREF]
  • Sklar , P. 2002 . Linkage analysis in psychiatric disorders: The emerging picture. . Annual Review of Genomics: Human Genetics , 3 : 371 – 413 . [CROSSREF]
  • Smith , E. E. and Jonides , J. 1999 . Storage and executive processes in the frontal lobes. . Science , 283 : 1257 – 1661 .
  • Solot , C. , Gerdes , M. and Wang , P. Presentation at the Fourth Annual Velo-Cardio-Facial Education Foundation meeting . Developmental profiles of preschool patients with 22q11.2 deletion . Boston. Boston, MA
  • Sugama , S. , Bigham , P. , Wang , P. , Moss , E. , Kobayashi , H. and Eto , Y. 2000 . Morphometry of the head of the caudate nucleus in patients with velocardiofacial syndrome. . Acta Paediatrica , 89 : 546 – 549 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Swillen , A. , Devriendt , K. , Legius , E. , Eyskens , B. , Dumoulin , M. and Gewillig , M. 1997 . Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with 22q11.2 Deletion Syndrome. . Journal of Medical Genetics , 34 : 453 – 458 . [PUBMED] [INFOTRIEVE] [CSA]
  • Swillen , A. , Vandeputte , L. , Cracco , J. , Maes , B. , Ghesquiere , P. , Devriendt , K. and Fryns , J. 1999 . Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): Evidence for a nonverbal learning disability? Journal of Child Neuropsychology . 5 : 230 – 241 .
  • Takao , A. , Ando , M. and Cho , K. 1980 . Etiology and Morphogenesis of Congenital Heart Disease , Edited by: Van Praagh , R. and Takao , A. 253 – 269 . Mount Kisco, NY : Futura. .
  • van Amelsvoort , T. , Daly , E. , Robertson , D. , Suckling , J. , Ng , V. , Critchley , H. , Owen , M. J. , Henry , J. , Murphy , K. C. and Murphy , D. G. M. 2001 . Structural brain abnormalities associated with deletion at chromosome 22q11: Quantitative neuroimagiang study of adults with velo-cardio-facial syndrome. . British Journal of Psychiatry , 178 : 412 – 419 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Vogels , A. , Verhoeven , W. M. A. , Tuinier , S. , DeVriendt , K. , Swillen , A. , Curfs , L. M. G. and Frijns , J. P. 2002 . The psychopathological phenotype of velo-cardio-facial syndrome. . Annales de Genetique , 45 : 89 – 95 . [PUBMED] [INFOTRIEVE] [CSA]
  • Wang , P. P. , Woodin , M. F. , Kreps-Falk , R. and Moss , E. M. 2000 . Research on behavioral phenotypes: Velocardiofacial syndrome (deletion 22q11.2). . Developmental Medicine and Child Neurology , 42 : 422 – 428 . [PUBMED] [INFOTRIEVE] [CROSSREF]
  • Warrington , E. K. and James , M. 1988 . Visual apperceptive agnosia: A clinico-anatomical study of three cases. . Cortex , 24 : 13 – 32 . [PUBMED] [INFOTRIEVE]
  • Woodin , M. , Wang , P. , Bearden , C. , McDonald-McGinn , D. , Zackai , E. and Emanuel , B. 2000 . Attention, working memory, and executive functions in children and adolescents with velocardiofacial syndrome: Patterns, profiles, and presentation. . Journal of the International Neuropsychological Society , 6 : 160
  • Yamagishi , H. , Garg , V. , Matsuoka , R. , Thomas , T. and Srivastava , D. 1999 . A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. . Science , 283 : 1158 – 1161 . [PUBMED] [INFOTRIEVE] [CROSSREF]

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.