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CENTERS FOR 22q11 SUPPORT/RESEARCH

Children's Hospital of Philadelphia
22q & You Newsletter
Clinical Genetics
34 th and Civic Center Blvd.
Philadelphia, PA 19104
Tel: (215) 590-2920

The Velo-Cardio-Facial Syndrome Educational Foundation, Inc
Karen J. Golding-Kushner, Ph.D., 
Executive Director
P.O. Box 874
Milltown, New Jersey 08850
tel: 1-866-VCFSEF5 (toll free) or 1-732-238-8803
general: info@vcfsef.org
for more specific inquiries: kgkushner@vcfsef.org

The 22q11 Deletion Syndrome Clinic, The Hospital for Sick Children
Division of Clinical and Metabolic Genetics
525 University Avenue, Suite 940, 9th Floor 
Toronto, Ontario   M5G 1X8
Phone: (416) 813-6390   Fax: (416) 813-5345

The International 22q11.2 Deletion Syndrome Foundation, Inc.
P.O. Box 15, Haddon Heights, NJ  08035
www.22q.org, info@22q.org, tel: (877) 739-1849

AUSTRALIA: VCFS Foundation (Qld) Inc.

M.I.N.D. website at www.mindinstitute.org.  
Contact:   Caren Galloway, Clinical Research Coordinator
Cognitive Analysis and Brain Imaging Lab
UC Davis M.I.N.D. Institute
2825 50th Street
Sacramento, CA 95817
(916) 703-0408
Caren.Galloway@ucdmc.ucdavis.edu

Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome
Dr. Robert J. Shprintzen, Director
Jacobsen Hall, SUNY Upstate Medical University
175 Elizabeth Blackwell Street, Syracuse, NY 13210
tel: (315) 464-6590  Fax: (315) 464-6593

Albert Einstein College of Medicine
Dept of Molecular Genetics
1300 Morris Park Avenue
Bronx, NY 10461
tel: 718-430-4274

The Rockefeller University
1230 York Avenue Box 45
New York NY 10131-3100
tel:1-888-920-9100 toll free

Please note that this page was created by a Mom, not a genetics expert and the absolute best places to find info on this disorder are the centers linked above, or in the links below. This site is merely for basic background, where parents can meet and share their stories, and find links to other excellent sources of info. If you see any discrepancies in anything I have written, PLEASE write and correct me, or if you think something should be added, links or info, feel free to contact me at a815@c22c.org

22q11 DELETION REFERENCE ARTICLES

2007   

Liang HP, Morel-Kopp MC, Curtin J, Wilson M, Hewson J, Chen W, Ward CM. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thromb Haemost. 2007 Dec;98(6):1298-308.

Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2007 Nov 21.

Debbané M, Van der Linden M, Glaser B, Eliez S. Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS). Psychol Med. 2007 Nov 16;1-10.

Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, Monks S, Del Favero J, Goossens D, Rujescu D, Kirov G, Craddock N, Murphy K, O'Donovan MC, Owen MJ. Strong evidence that GNB1L is associated with schizophrenia. Hum Mol Genet. 2007 Nov 13.

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A. 2007 Nov 14.

Erickson RP, de Stċhl TD, Bruder CE, Dumanski JP. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. Am J Med Genet A. 2007 Nov 13.

Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol. 2007 Sep;14(3):136-9.

Hoogendoorn ML, Vorstman JA, Jalali GR, Selten JP, Sinke RJ, Emanuel BS, Kahn RS.

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia. Schizophr Res. 2007 Oct 25. 

Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007 Oct 20;370(9596):1443-52.

Michaelovsky E, Gothelf D, Korostishevsky M, Frisch A, Burg M, Carmel M, Steinberg T, Inbar D, Apter A, Weizman A. Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS. Int J Neuropsychopharmacol. 2007 Oct 22;:1-13.

Kates WR, Antshel KM, Fremont WP, Shprintzen RJ, Strunge LA, Burnette CP, Higgins AM. Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism. Am J Med Genet A. 2007 Oct 15.

Simon TJ, Takarae Y, Deboer T, McDonald-McGinn DM, Zackai EH, Ross JL. Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia. 2007 Aug 26.

Kyburz A, Bauersfeld U, Schinzel A, Riegel M, Hug M, Tomaske M, Valsangiacomo Buchel ER. The Fate of Children with Microdeletion 22q11.2 Syndrome and Congenital Heart Defect: Clinical Course and Cardiac Outcome. Pediatr Cardiol. 2007 Sep 29.

Jungerius BJ, Hoogendoorn ML, Bakker SC, Van't Slot R, Bardoel AF, Ophoff RA, Wijmenga C, Kahn RS, Sinke RJ. An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia. Mol Psychiatry. 2007 Sep 25.

Parker RI. Blood transfusions in patients with 22q11.2 deletion syndrome: Assessment of risk requires identification of the at-risk patient*. Pediatr Crit Care Med. 2007 Sep;8(5):502-3.

Jatana V, Gillis J, Webster BH, Ades LC. Deletion 22q11.2 syndrome-Implications for the intensive care physician* Pediatr Crit Care Med. 2007 Sep;8(5):459-463.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, De Jong PJ.  Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization. J Med Genet. 2007 Sep 14.

Kaulitz R, Ziemer G, Hofbeck M. Proximal origin and hypoplasia of the left pulmonary artery in association with chromosome 22q11 deletion, right aortic arch, and persistently patent right-sided arterial duct. Cardiol Young. 2007 Sep 17;:1-2

Glaser B, Schaer M, Berney S, Debbane M, Vuilleumier P, Eliez S. Structural changes to the fusiform gyrus: A cerebral marker for social impairments in 22q11.2 deletion syndrome? Schizophr Res. 2007 Sep 7.

Gothelf D, Penniman L, Gu E, Eliez S, Reiss AL. Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: A longitudinal study. Schizophr Res. 2007 Sep 3.

McCarthy J. Children with autism spectrum disorders and intellectual disability. Curr Opin Psychiatry. 2007 Sep;20(5):472-6.

De Smedt B, Devriendt K, Fryns JP, Vogels A, Gewillig M, Swillen A. Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. J Intellect Disabil Res. 2007 Sep;51(Pt 9):666-70.

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Roizen NJ, Antshel KM, Fremont W, Abdulsabur N, Higgins AM, Shprintzen RJ, Kates WR.  22q11.2DS Deletion Syndrome: Developmental Milestones in Infants and Toddlers. J Dev Behav Pediatr. 2007 Apr;28(2):119-124.

Dempsey MA, Schwartz S, Waggoner DJ.  Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome. Am J Med Genet A. 2007 Apr 12.

Gothelf D, Hoeft F, Hinard C, Hallmayer JF, Van Dover Stoecker J, Antonarakis SE, Morris MA, Reiss AL. Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome. Hum Brain Mapp. 2007 Apr 10.

Golthef D, et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome.  Am J Psychiatry, 164:4; April 2007

Yu R, Zhang XN, Huang XX, Ding SP, Li JC.  Association analysis of COMT polymorphisms and schizophrenia in a Chinese Han population: A case-control study. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 10.

Vorstman JA, Morcus ME, van Engeland H. Autism in children with 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry. 2007 Apr;46(4):434-5.

Eliez S. Autism in children with 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry. 2007 Apr;46(4):433-4.

Torres-Juan L, Rosell J, Sanchez de la Torre M, Fibla J, Heine-Suner D.  Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet. 2007 Apr 2;8(1):14.

Funke BH, Brown AC, Ramoni MF, Regan ME, Baglieri C, Finn CT, Babcock M, Shprintzen RJ, Morrow BE, Kucherlapati R.  A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genet Test. 2007 Spring;11(1):91-100.

Tokuyasu TA, Cotter PD, Segraves R, Harris J, Elder ME, Gonzales M, Pinkel D, Albertson DG, Rauen KA.  Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system. Am J Med Genet A. 2007 Mar 29.

Ousley O, Rockers K, Dell ML, Coleman K, Cubells JF.  A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment. Curr Psychiatry Rep. 2007 Apr;9(2):148-58. 

Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, Garcia-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suner D. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet. 2007 Mar 21.

Digilio MC, Marino B, Dallapiccola B.  Deletion 22q11 and isolated congenital heart disease. Int J Cardiol. 2007 Feb 26.

Jansen PW, Duijff SN, Beemer FA, Vorstman JA, Klaassen PW, Morcus ME, Heineman-de Boer JA.  Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: A matched control study. Am J Med Genet A. 2007 Feb 22;143A(6):574-580. 

Majerus S, Van der Linden M, Braissand V, Eliez S. Verbal short-term memory in individuals with chromosome 22q11.2 deletion: specific deficit in serial order retention capacities? Am J Ment Retard. 2007 Mar;112(2):79-93. 

Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res. 2007 Feb 6.

Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, Chinn IK, Hale LP, Kepler TB, He M, Sarzotti M, Skinner MA, Rice HE, Hoehner JC. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 Feb 6.

Briegel W, Schneider M, Schwab KO. 22q11.2 deletion syndrome: behaviour problems of infants and parental stress. Child Care Health Dev. 2007 May;33(3):319-24.

Sandrin-Garcia P, Abramides DV, Martelli LR, Ramos ES, Richieri-Costa A, Passos GA. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.Mol Cell Biochem. 2007 Apr 11.

Kummer AW, Lee L, Stutz LS, Maroney A, Brandt JW. The prevalence of apraxia characteristics in patients with velocardiofacial syndrome as compared with other cleft populations. Cleft Palate Craniofac J. 2007 Mar;44(2):175-81. 

Carandang CG, Scholten MC. Metyrosine in psychosis associated with 22q11.2 deletion syndrome: case report. J Child Adolesc Psychopharmacol. 2007 Feb;17(1):115-20. 

Aneja A, Fremont WP, Antshel KM, Faraone SV, AbdulSabur N, Higgins AM, Shprintzen R, Kates WR. Manic symptoms and behavioral dysregulation in youth with velocardiofacial syndrome (22q11.2 deletion syndrome). J Child Adolesc Psychopharmacol. 2007 Feb;17(1):105-14.

Antshel KM, Stallone K, Abdulsabur N, Shprintzen R, Roizen N, Higgins AM, Kates WR. Temperament in velocardiofacial syndrome. Intellect Disabil Res. 2007 Mar;51(Pt 3):218-27.

Majerus S, Van der Linden M, Braissand V, Eliez S. Verbal short-term memory in individuals with chromosome 22q11.2 deletion: specific deficit in serial order retention capacities? Am J Ment Retard. 2007 Mar;112(2):79-93.

Oh AK, Workman LA, Wong GB. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. Cleft Palate Craniofac J. 2007 Jan;44(1):62-6.

Alberti A, Romano C, Falco M, Cali F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet. 2007 Feb;71(2):177-82. 

Kaneko Y, Yoda H, Tsuchiya K. Airway compression by major aortopulmonary collaterals with 22q11 deletion. Asian Cardiovasc Thorac Ann. 2007 Jan;15(1):e9-e11. 

Klingberg G, Lingstrom P, Oskarsdottir S, Friman V, Bohman E, Carlen A.  Caries-related saliva properties in individuals with 22q11 deletion syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jan 16.

Loukopoulos P, Shibata T, Katoh H, Kokubu A, Sakamoto M, Yamazaki K, Kosuge T, Kanai Y, Hosoda F, Imoto I, Ohki M, Inazawa J, Hirohashi S. Genome-wide array-based comparative genomic hybridization analysis of pancreatic adenocarcinoma: identification of genetic indicators that predict patient outcome. Cancer Sci. 2007 Jan 19.

Begleiter ML, Lund MM, Atherton AM, Buchholz JD, Ardinger HH. Maternal serum screening and 22q11.2 deletion syndrome. Am J Med Genet A. 2007 Jan 17. 

 Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EW. Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome. Biol Psychiatry. 2007 Jan 8.

Oh AK, Workman LA, Wong GB.  Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. Cleft Palate Craniofac J. 2007 Jan;44(1):62-6. 

2006  

Alkan T, Akcevin A, Turkoglu H, Paker T, Aytac A. Shprintzen (Velo-Cardio-Facial) Syndrome: A Rare Case. ASAIO J. 2006 November/December;52(6):e33-e34. 

Madan N, Schneider DJ, Jacobs ML. Right Aortic Arch, Isolated Left Subclavian Artery and Ductus Arteriosus with Normal Intracardiac Anatomy: Rare Manifestation of Chromosome 22q11 Deletion. Pediatr Cardiol. 2006 Nov 16.

Strenge S, Kujat A, Zelante L, Froster UG. A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. Am J Med Genet A. 2006 Nov 13.

Heliovaara A, Hurmerinta K. Craniofacial cephalometric morphology in children with CATCH 22 syndrome. Orthod Craniofac Res. 2006 Nov;9(4):186-92.

McClarren J, Donnenfeld AE, Ravnan JB. Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion. Prenat Diagn. 2006 Nov 13.

Meechan DW, Maynard TM, Wu Y, Gopalakrishna D, Lieberman JA, Lamantia AS. Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome. Mol Cell Neurosci. 2006 Nov 9.

Gawde H, Patel ZM, Khatkhatey MI, D'Souza A, Babu S, Adhia R, Kerkar P. Chromosome 22 microdeletion by F.I.S.H. in isolated congenital heart disease. Indian J Pediatr. 2006 Oct;73(10):885-888. 

Baldini A. The 22q11.2 deletion syndrome: a gene dosage perspective. ScientificWorldJournal. 2006 May 1; 6:1881-7.

Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K, Abdulsabur N, Higgins AM, Shprintzen RJ, Kates WR. Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion). J Autism Dev Disord. 2006 Dec 19.

Machado AM, Simon TJ, Nguyen V, McDonald-McGinn DM, Zackai EH, Gee JC. Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res. 2006 Dec 12.

Fagman H, Liao J, Westerlund J, Andersson L, Morrow BE, Nilsson M. The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning. Hum Mol Genet. 2006 Dec 12.

Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A. 2006 Dec 12. 

Forbes BJ, Binenbaum G, Edmond JC, Delarato N, McDonald-McGinn DM, Zackai EH. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS. 2006 Nov 29.

Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Breviere GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gerard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. INVOLVEMENT OF HYPERPROLINEMIA IN COGNITIVE AND PSYCHIATRIC FEATURES OF THE 22q11 DELETION SYNDROME. Hum Mol Genet. 2006 Nov 29.

Clarke JR, Schmidt MH, Macken MB, Morley C, Cummings EA. A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder. Pediatr Radiol. 2006 Nov 28.

Chen M, Hwu WL, Kuo SJ, Chen CP, Yin PL, Chang SP, Lee DJ, Chen TH, Wang BT, Lin CC. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype. Ultrasound Obstet Gynecol. 2006 Nov 23;28(7):939-943 .

De Smedt B, Swillen A, Devriendt K, Fryns JP, Verschaffel L, Ghesquiere P. Mathematical disabilities in children with velo-cardio-facial syndrome. Neuropsychologia. 2006 Oct 16.

Driscoll DA. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. Methods Mol Med. 2006;126:43-55. 

Long JM, Laporte P, Merscher S, Funke B, Saint-Jore B, Puech A, Kucherlapati R, Morrow BE, Skoultchi AI, Wynshaw-Boris A. Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics. 2006 Nov;7(4):247-57.

Cron RQ, Sullivan KE. Chronic arthritis without uveitis in velocardiofacial syndrome. J Pediatr. 2006 Aug;149(2):281.

Al-Jenaidi F, Makitie O, Grunebaum E, Sochett E. Parathyroid Gland Dysfunction in 22q11.2 Deletion Syndrome. Horm Res. 2006 Oct 19;67(3):117-122

Bearden CE, van Erp TG, Dutton RA, Tran H, Zimmermann L, Sun D, Geaga JA, Simon TJ, Glahn DC, Cannon TD, Emanuel BS, Toga AW, Thompson PM.  Mapping Cortical Thickness in Children with 22q11.2 Deletions. Cereb Cortex. 2006 Oct 20.

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballin MR, Guitart M. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Am J Med Genet A. 2006 Oct 13.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Oct 11.

Lewandowski KE, Shashi V, Berry PM, Kwapil TR. Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006 Oct 10.

Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Bassett AS. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet. 2006 Oct 7.  

Vorstman, J.A. S. et al. The 22q11.2 deletion in Children" High rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychatry, 45:9; September 2006.

Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Genet. 2006 Sep 25;

Schaan BD, Huber J, Leite JC, Kiss A. Cardiac surgery unmasks latent hypoparathyroidism in a child with the 22q11.2 deletion syndrome. J Pediatr Endocrinol Metab. 2006 Jul;19(7):943-6.

Sobin C, Monk SH, Kiley-Brabeck K, Khuri J, Karayiorgou M. Neuromotor deficits in children with the 22q11 deletion syndrome. Mov Disord. 2006 Sep 21.

Arinami T. Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia. J Hum Genet. 2006 Sep 13.

Katzman PJ, Smoot LB, Cox GF. Cardiac Registry Screening for DiGeorge Critical Region Deletion Using Loss of Heterozygosity Analysis. Pediatr Dev Pathol. 2006 Jul-Aug;9(4):266-79.

Robertson MM, Shelley BP, Dalwai S, Brewer C, Critchley HD. A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome? J Psychosom Res. 2006 Sep;61(3):365-8. 

Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, Swaab H, Kahn RS, van Engeland H. The 22q11.2 Deletion in Children: High Rate of Autistic Disorders and Early Onset of Psychotic Symptoms. J Am Acad Child Adolesc Psychiatry. 2006 Sep;45(9):1104-1113. 

Dose-Dependent Interaction of Tbx1 and Crkl and Locally Aberrant RA Signaling in a Model of del22q11 Syndrome.,Guris DL, Duester G, Papaioannou VE, Imamoto A.  Dev Cell. 2006 Jan;10(1):81-92.

Crkl deficiency disrupts fgf8 signaling in a mouse model of 22q11 deletion syndromes. Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A.   Dev Cell. 2006 Jan;10(1):71-80.

Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia. Wang H, Duan S, Du J, Li X, Xu Y, Zhang Z, Wang Y, Huang G, Feng G, He L. J Neural Transm. 2006 Jan 25.

Velo-Cardio-Facial syndrome at the psychiatry consulting-liaison service in a general hospital. Fernandez-Egea E, Ferrer A, Torrebadell M, Carrio A.  Actas Esp Psiquiatr. 2006 Jan-Feb;34(1):67-8 

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.  Arnold JS, Werling U, Braunstein EM, Liao J, Nowotschin S, Edelmann W, Hebert JM, Morrow BE. Development. 2006 Feb 1.

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. Yakut T, Kilic SS, Cil E, Yapici E, Egeli U.  Pediatr Surg Int. 2006 Feb 4;:1-4. 

Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency.Donnenfeld AE, Cutillo D, Horwitz J, Knops J.  Am J Obstet Gynecol. 2006 Feb;194(2):508-11.

Variable phenotype and associations in chromosome 22q11.2 microdeletion.Derbent M, Bikmaz YE, Yilmaz Z, Tokel K.   Am J Med Genet A. 2006 Feb 6.

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients. Al-Mudaffer M, Puri P, Reardon W.   Pediatr Surg Int. 2006 Feb 17.

The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology. Lajiness-O'Neill R, Beaulieu I, Asamoah A, Titus JB, Bawle E, Ahmad S, Kirk JW, Pollack R. . Arch Clin Neuropsychol. 2006 Feb;21(2):175-84. 

SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. Jyonouchi H, Lien KW, Aguila H, Spinnato GG, Sabharwal S, Pletcher BA.  Eur J Pediatr. 2006 Feb 21.

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Bish JP, Pendyal A, Ding L, Ferrante H, Nguyen V, McDonald-McGinn D, Zackai E, Simon TJ.  Neurosci Lett. 2006 Mar 2.

Genetic Syndromes and Outcome After Surgical Correction of Tetralogy of Fallot. Michielon G, Marino B, Formigari R, Gargiulo G, Picchio F, Digilio MC, Anaclerio S, Oricchio G, Sanders SP, Di Donato RM.   Ann Thorac Surg. 2006 Mar;81(3):968-975.  

No Evidence for an Effect of COMT Val158Met Genotype on Executive Function in Patients With 22q11 Deletion Syndrome. Glaser B, Debbane M, Hinard C, Morris MA, Dahoun SP, Antonarakis SE, Eliez S.  Am J Psychiatry. 2006 Mar;163(3):537-9.

 Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions. Uddin RK, Zhang Y, Siu VM, Fan YS, O'reilly RL, Rao J, Singh SM.  BMC Med Genet. 2006 Mar 2;7(1):18.   

Tracheobronchial anomalies in chromosome 22q11.2 microdeletion. Bertolani MF, Bergamini BM, Predieri B, Mirmassoumi S, Bertolani P, Sacco O, Ferrari P.  Am J Med Genet A. 2006 Mar 8.

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, Hoyme HE, Yang SP, Adam MP, Zackai EH, Sullivan KE.   Am J Med Genet A. 2006 Mar 10.

Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications. Debbane M, Glaser B, David MK, Feinstein C, Eliez S.  Schizophr Res. 2006 Mar 15.

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.  Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil T. Clin Genet. 2006 Mar;69(3):234-8.

Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome. Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland G.  Heart. 2006 Mar 17.

Upper airway asymmetry in velo-cardio-facial syndrome. Chegar BE, Tatum SA 3rd, Marrinan E, Shprintzen RJ.   Int J Pediatr Otorhinolaryngol. 2006 Mar 18.

PCR screening for 22q11.2 microdeletion: Development of a new cost-effective diagnostic tool. Gioli-Pereira L, Pereira AC, Mesquita SM, Lopes AA, Krieger JE. Clin Chim Acta. 2006 Mar 28.

Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, Ng V, van Amelsvoort T, Chitnis X, Cutter W, Murphy DG, Murphy KC.    Brain. 2006 Mar 28.

22q11.2 deletion mosaicism in patients with conotruncal heart defects. Jianrong L, Yinglong L, Xiaodong L, Cuntao Y, Bin C, Bo W.  Birth Defects Res A Clin Mol Teratol. 2006 Mar 30.

Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome. Kanaya Y, Ohga S, Ikeda K, Furuno K, Ohno T, Takada H, Kinukawa N, Hara T.  Clin Exp Immunol. 2006 Apr;144(1):85-93. 

Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Nowotschin S, Liao J, Gage PJ, Epstein JA, Campione M, Morrow BE.  Development. 2006 Apr;133(8):1565-73.

Prevalence of ADHD in Children with Velocardiofacial Syndrome: A Preliminary Report.  Zagursky K, Weller RA, Jessani N, Abbas J, Weller EB. Curr Psychiatry Rep. 2006 Apr;8(2):102-107.

Velocardiofacial Syndrome: Is There a Neuropsychiatric Phenotype?  Jolin EM, Weller EB, Weller RA. Curr Psychiatry Rep. 2006 Apr;8(2):96-101.

A Biologic Model to Study the Genetics of Psychotic, Mood, and Anxiety Disorders: The Velocardiofacial Syndrome. Jolin EM, Weller EB, Weller RA.  Curr Psychiatry Rep. 2006 Apr;8(2):90-95. 

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. Yakut T, Kilic SS, Cil E, Yapici E, Egeli U.   Pediatr Surg Int. 2006 Apr;22. 

2005

*Defining the Clinical Spectrum of Deletion 22q11.2. Ross, N. H., Shprintzen, R. J. The Journal of Pediatrics, July 2005. pp. 90-96.

*A Multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Simon, et al. Development and Psychopathology, 17(2005) pp 753-784.

*The neuropsychological phenotype of velocardiofacial syndrome (VCFS): Relationship to psychopathology. Lajiness-O'Neill, R. et al. Archives of Clinical Neuropsychology 2005. 

*Clinical features of 78 adults with 22q11 deletion syndrome. Bassett, A., Chow, E. Husted, J. Weksberg, R. Caluseriu, O. Webb, G. Gatzoulis M. Americal Journal of Medical Genetics October 5, 2005. 

*Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22q11.2 Deletion Syndrome. Simon, T. Bearden, C. McDonald-McGinn, D., Zackai, E. 

*Maladaptive Conflict Monitoring as Evidence for Executive Dysfunction in Children with Chromosome 22q11.2 Deletion Syndrome. Bish, J., Ferrante, S., McDonald-McGinn, D., Zackai, E., Simon, T. Developmental Science.

*Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Simon, T., Ding, L., Bish, J. McDonald-McGinn, D., Zackai, E., Gee, J. NeuroImage 25 (2005) 169-180.

Juvenile dermatomyositis in association with 22q11.2 deletion syndrome. Okiyama N, Yamamoto T, Watanabe K, Yokozeki H, Nishioka K. Br J Dermatol. 2005 Jun;152(6):1370-2.

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney. Wieser R, Fritz B, Ullmann R, Muller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H. Hum Mutat. 2005 Jun 14.

COMT Val(108/158)Met Modifies Mismatch Negativity and Cognitive Function in 22q11 Deletion Syndrome.Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D. Biol Psychiatry. 2005 Jun 1.

Lower prepulse inhibition in children with the 22q11 deletion syndrome. Sobin C, Kiley-Brabeck K, Karayiorgou M. Am J Psychiatry. 2005 Jun;162(6):1090-9.

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22). Soares G, Alvares S, Rocha C, Teixeira MF, Mota MC, Reis MI, Feijo MJ, Lima MR, Pinto MR. Rev Port Cardiol. 2005 Mar;24(3):349-71.

Obstetrics: 22q11 deletion syndrome with truncus arteriosus, hypoplastic left ventricle, VSD, clubfoot, sandal toes, cleft palate, butterfly vertebrae. Harris RD. Ultrasound Q. 2005 Jun;21(2):125-6.

Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. Fernandez L, Lapunzina P, Pajares IL, Criado GR, Garcia-Guereta L, Perez J, Quero J, Delicado A. Am J Med Genet A. 2005 May 11.

Polymicrogyria versus pachygyria in 22q11 microdeletion. de Vries BB. Am J Med Genet A. 2005 May 10.

Annotation: velo-cardio-facial syndrome. Murphy KC. J Child Psychol Psychiatry. 2005 Jun;46(6):563-71.

The breakpoint cluster region gene on chromosome 22q11 is associated with bipolar disorder. Hashimoto R, Okada T, Kato T, Kosuga A, Tatsumi M, Kamijima K, Kunugi H. Biol Psychiatry. 2005 May 15;57(10):1097-102.

Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome). Antshel KM, Conchelos J, Lanzetta G, Fremont W, Kates WR. Psychiatry Res. 2005 Apr 30;138(3):235-45.

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Huffmeier U, Weyand M, Singer H, Hofbeck M. J Med Genet. 2005 Apr 14.

Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. Staple L, Andrews T, McDonald-McGinn D, Zackai E, Sullivan KE. Pediatr Allergy Immunol. 2005 May;16(3):226-30.

Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Bearden CE, Jawad AF, Lynch DR, Monterossso JR, Sokol S, McDonald-McGinn DM, Saitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ. Neuropsychol Dev Cogn C Child Neuropsychol. 2005 Feb;11(1):109-17.

*Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Simon, T. J., Ding, L., Bish, J. P., McDonald-McGinn, D., Zackai, E., Gee, J., NeuroImage 25 (2005) 169-180.

*Familial Recurrence of Nonsyndromic Congenital Heart Defects in First Degree Relatives of Patients with Deletion 22q11.2 Digilio, M.C., Marino, B., Capolino, R., Angioni, A., Sarkozy, S., Roberti, M.C., Conti, E., de Zorzi, A., Dallapiccola, B., Am J Med Genet 134A:158-164 (2005).

*Association of Deletion 22 and Trisomy 21: A Likely Random Association in Patients with Conotruncal Heart Defects. Marino, M., Am J. Med. Genet. 134A:1-2 (2005).

*Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Baker, K. D., nd Skuse, D. H. British Journal of Psychiatry. 186: 115-120. 2005.

2004

*Middle and Inner Ear Malformation in Velocardiofacial Syndrome. Devriendt, K., et al. American Journal of Medical Genetics. 131A:255-226, 2004.

*Radiographic Study of the Upper Cervical Spine int he 22q11.2 Deletion Syndrome. Ricchetti, E. T., et al. The Journal of Bone and Joint Surgery, Vol. 86-A, No. 8. August 2004.

*Brain Anatomy in Adults with Velocardiofacial Syndrome With and Without Schizophrenia. van Amelsvoort, T. et al. Arch Gen Psychiatry, Vol 61, November 2004. p. 1085-1096.

*Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Bearden CE, van Erp TG, Monterosso JR, Simon TJ, Glahn DC, Saleh PA, Hill NM, McDonald-McGinn DM, Zackai E, Emanuel BS, Cannon TD. Neurocase. 2004 Jun;10(3):198-206.  

*Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the Autism spectrum. Manning, M. A., Cassidy, S. B., Clericuzio C., Cherry, A. M., Schwartz, S., Hudgins, L., Enns. G. Hoyme, H. Pediatrics.  Vol. 114 No. 2. August 2004.

*Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Saitta, S.C., Harris, S.E. Gaeth, A.P., Driscoll, D. A., McDonald-McGinn, D. M.,  Maisenbacher, M. K., Yersak, J. M., Chakraborty, P. K., Hacker, A. M., Zackai, E. H., Asahley, T., Emanuel, B. Human Molecular Genetics. Vol 13. No. 4 417-428. 2004.

* Independent De Novo 22q11.2 Deletions in First Cousins with DiGeorge/Velocardiofacial Syndrome. Saitta, S.C., Harris, S.E. McDonald-McGinn, D. M. Emanuel, B. S. Tonnesen, M. K. Zackai, E. H. Seitz, S. C., Driscoll, D. A.  Am J Med Genet 124A:313-317 (2004).

*Two cases of generalized seizures and the Velocardiofacial syndrome - a clinically significant association? El Tahir, M.O., Kerr, M., Jones, R. G. Journal of Intellectual Disability Research, Volume 48, Part 7, pp 695-698, October 2004.

*Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients with 22q11.2 Deletion Syndrome. Bearden, C., Jawad, A., Lynch, D., Sokol, S., Kanes, S., McDonald-McGinn, D., Saitta, S., Harris, S., Moss, E., Wang, P., Zackai, E., Emanuel, B., Simon, T. Am J Psychiatry, 161:9, September 2004.

*The behavioural phenotype in velo-cardio-facial syndrome. Murphy, K.C., Journal of Intellectual Disability Research, Vol. 48, Part 6., pp 524-530 September 2004.

*Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome. van Amelsvoort, T., Henry, J., Morris, R., Owen, M., Liszen, D., Murphy, K., Murphy, D. Schizophrenia Research, 70 (2004) pp 223-232.

*Radiographic Study of the Upper Cervical Spine in the 22q11.2 Deletion Syndrome. Ricchetti, E., States, L., Hosalkar, H., Tamai, J., Maisenbacher, M., McDonald-McGinn, D., Zackai, E., Drummond, D. The Journal of Bone and Joint Surgery, Vol. 86-A, No. 8, August 2004.

*Prenatal diagnosis of mosaic 22q11.2 microdeletion. Chen, C., Chern, S., Lee, C, Lin, S., Chang, T., Wang, W. Prenatal Diagnosis, 2004. 24: pp 658-664.

*Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Kao, A., Mariani, J., McDonald-McGinn, D. Maisenbacher, M., Brooks-Kayal, A., Zackai, E., Lynch, D. Am J Med Genet, 129A:29-34, 2004.

*Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. Bish, J., Nguyen, V., Ding, L., Ferrante, S., Simon, T. NeuroReport, Vol. 15, No. 9 28 June 2004, pp 1413-1415.

*Genetic, Developmental, and Physical Factors Associated with Attention Deficit Hyperactivity Disorder in Patients with Velocardiofacial Syndrome. Gothelf, D., et al. Am J Med Genet Part B (Neuropsychiatric Genetics) 126B: 116-121, 2004.

2003

*Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Ivanov D., et al. British Journal of Psychiatry, 183, 409-413, 2003.

*Thrombocytopenia in patients with Chromosome 22q11.2 Deletion syndrome. Lawrence, S., McDonald-McGinn, D. M., Zackai, E. H., Sullivan, K. E. The Journal of Pediatrics. p 277-8.August 2003.

*Assessment of the thymus at echocardiograophy in fetuses at risk for 22q11.2 deletion. Barrea, C.  et al. Prenatal Diagnosis. 2003, 23: 9-15

*A Palindrome-Mediated Mechanism Distinguished Translocations Involving LCR-B of Chromosome 22q11.2 Gotter, AL et al. Hum Mol Genet. 2003.

*Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients. Ensenauer, R. E. et al. Am J Hum Genet. 73:1027-1040, 2003.

*Vasomotor Instability in Neonates with Chromosome 22q11 Deletion Syndrome. Shashi V., et al. Am J Med Genet 121A:231-234, 2003.

Research Letter: Screening for Celiac Disease in Patients with Deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial Syndrome). Digilio, m. C. Am J Med Genet. 121A286-288, 2003.

*Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome) Ysunza, A., et al, International Journal of Pediatric Otorhinolaryngology 2003 67: 911-915.

*A Population-Based Study of the 22q11.2 deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population. Botto, LD, et al. Pediatrics Vol 112 No. 1 July 2003.

*Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical cases. Digilia, MC., et al, Clinical Genetics, 63: 308-313, 2003.

*Hypoparathyroidism and facial dysmorphism as main symptoms of 22q11 deletion syndrome. Yoshikawa, H and Abe, T., Brain and Development, 25, 211-214, 2003.

*Congenital cardiac defects with 22q11 deletion. Giray, O., Ulgenalp, A., Bora, E., Saylam, G. S., Unal, N., Mese T., Suphi, H., Ercal, D. Turkish Journal of Pediatrics. 45:217-220. 2003.

*Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/Velo-cardio-facial Syndrome) Am J Med Genet 121A:286-288. 2003. 

2002

* Cognitive Development in VCFS. Simon, T. J., Bearden, C. E., Moss, E. M., McDonald-McGinn, D., Zackai, E., Wang, P. P. Progress in Pediatric Cardiology 15, pp. 109-117, 2002.

*Apparently Unrelated Cytogenetic Abnormalities Among 462 Probands Referred for the Detection of del(22q) by FISH. Smith, A et al. Am J Med Genet 113:346-350, 2002.

*Search for Common Haplotypes on Chromosome 22q in Patients with Schizophrenia or Bipolar Disprder From the Faroe Islands. Jorgensen T.H. et al, Am J Med Genet (Neuropsychiatric Genetics) 114:245-252, 2002.

*Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11. Vole, P., et al, Ultrasound Obstet Gynecol 2002; 20: 327-331.

*Personality Profiles of Youngsters with Velo-cardio-facial syndrome. Prinzie, P, et al, Genetic Counseling, Vol. 13, No. 3, 2002 pp. 265-280.

*Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Liu, H. et al, PNAS, December 23, 2002, Vol. 99, No. 26, 16859-16864.

*Genitourinary Malformations in Chromosome 22q11.2 Deletion, Wu, Hsi-Yang, et al, The Journal of Uroloogy, Vol. 168, 2564-2565, December 2002.

*The psychopathological phenotype of velo-cardio-facial-syndrome. Vogels, A., et al, Annales de Genetique, 45 (2002) 89-95

*Velo-cardio-facial Syndrome: Clinical Report of a 70-year-old woman. Verhoeven, W.M.A., et al, Am J. Med Genet 111:409-411, 2002.

*Kousseff Syndrome Caused by Deletion of Chromosome 22q11-13. Forrester, Shawnia, et al, Am J Med Genet 112:338-342, 2002.

*The psychopathological phenotype of velo-cardio-facial syndrome. Vogels, A., et al. Annales De Genetique, 45 (2002) 89-95.

*Language Skills in children with velocardiofacial syndrome (deletion 22q11.2), Glaser, Bronwyn, et al. Journal of Pediatrics, June 2002  pgs 753-758

*Genomic Disorders on 22q11, McDermid, HE, and Morrow, BE, Am J Med Genet 70:1077-1088, 2002.