Jacobsson B, Clifton R, Egbert M, Malone F, Wapner RJ, Roman AS, et al. Cell-free DNA screening for prenatal detection of 22q11. 2 deletion syndrome. Am J Obstet Gynecol. 2022;227(1):79-e1-.e11.

Google Scholar 

McDonald-McGinn DM, Sullivan KE. Sullivan KE. Chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Med. 2011;90(1):1–18.

Article  Google Scholar 

Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999;64(4):1076–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morrow BE, McDonald‐McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Molecular genetics of 22q11. 2 deletion syndrome. Am J Med Genet A. 2018;176(10):2070–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guna A, Butcher NJ, Bassett AS. Comparative mapping of the 22q11. 2 deletion region and the potential of simple model organisms. J Neurodev Disord. 2015;7(1):1–16.

Article  Google Scholar 

Karayiorgou M, Simon TJ, Gogos JA. 22q11.2 microdeletions: Linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 2010;11(6):402–16.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Meechan DW, Tucker ES, Maynard TM, LaMantia A. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci. 2009;106(38):16434–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Philip N, Bassett AS. Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet. 2011;41(3):403–12.

Article  PubMed  PubMed Central  Google Scholar 

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071.

Article  PubMed  PubMed Central  Google Scholar 

Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992;42:141–2.

Article  CAS  PubMed  Google Scholar 

Swillen A, McDonald‐McGinn D. McDonald‐McGinn D. Developmental trajectories in 22q11. 2 deletion syndrome. Am J Med Genet C Semin Med Genet. 2015;169C:172–81.

Article  Google Scholar 

Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald‐McGinn DM, Crowley TB, et al. Variance of IQ is partially dependent on deletion type among 1,427 22q11. 2 deletion syndrome subjects. Am J Med Genet A. 2018;176(10):2172–81.

Bish JP, Ferrante SM, McDonald-McGinn D, Zackai E, Simon TJ. Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. Dev Sci. 2005;8(1):36–43.

Article  PubMed  Google Scholar 

Rockers K, Ousley O, Sutton T, Schoenberg E, Coleman K, Walker E, et al. Performance on the modified card sorting test and its relation to psychopathology in adolescents and young adults with 22q11.2 deletion syndrome. J Intellect Disabil Res. 2009 53(7):665–76.

Article  CAS  PubMed  Google Scholar 

Sobin C, Kiley-Brabeck K, Daniels S, Blundell M, Anyane-Yeboa K, Karayiorgou M. Networks of attention in children with the 22q11 deletion syndrome. Dev Neuropsychol. 2004;26(2):611–26.

Article  PubMed  PubMed Central  Google Scholar 

Van Aken K, Swillen A, Beirinckx M, Janssens L, Caeyenberghs K, Smits-Engelsman B. Prospective control abilities during visuo-manual tracking in children with 22q11.2 Deletion syndrome compared to age- and IQ-matched controls. Res Dev Disabil. 2010;31(3):634–41.

Article  PubMed  Google Scholar 

Bearden CE, Woodin MF, Wang PP, Moss E, McDonald-McGinn D, Zackai E, et al. The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol. 2001;23(4):447–64.

Article  CAS  PubMed  Google Scholar 

Swillen A, Devriendt K, Legius E, Prinzie P, Vogels A, Ghesquière P, et al. The behavioural phenotyoe in velo-cardio-facial syndrome (VCFS): From infancy to adolescence. Genetic Counceling. 1999;10(1):79–88.

CAS  Google Scholar 

Antshel KM, Fremont W, Kates WR. The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. Dev Disabil Res Rev. 2008;14(1):43–51.

Article  PubMed  Google Scholar 

Cabaral M, Beaton EA, Stoddard J, Simon TJ. Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome. J Neurodev Disord. 2012;4(6):1–8.

Google Scholar 

Simon TJ, Bish JP, Bearden CE, Ding L, Ferrante S, Nguyen V, et al. A multilevel analysis of cognitive dysfunction and psychopathology associated with chromossome 22q11.2 deletion syndrome in children. Dev Psychopathology. 2005;17(3):753–84.

Article  Google Scholar 

Howley SA, Prasad SE, Pender NP, Murphy KC. Relationship between reaction time, fine motor control, and visual-spatial perception on vigilance and visual-motor tasks in 22q11.2 Deletion Syndrome. Res Dev Disabil. 2012;33(5):1495–502.

Article  PubMed  Google Scholar 

Lajiness-O’Neill RR, Beaulieu I, Titus JB, Asamoah A, Bigler ED, Bawle EV, et al. Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption? Child Neuropsychol. 2005;11(1):55–71.

Murphy KC. Schizophrenia and velo-cardio-facial syndrome. The Lancet. 2002;359(9304):426–30.

Article  Google Scholar 

Bassett AS, Chow EWC, Weksberg R. Chromosomal abnormalities and schizophrenia. Am J Med Genet. 2000;97:45–51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baker K, Vorstman JA. Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome? Curr Opin Neurol. 2012;25(2):131–7.

Article  CAS  PubMed  Google Scholar 

Bassett AS, Chow EWC. 22q11 deletion syndrome: A genetic subtype of schizophrenia. Biol Psychiat. 1999;10:882–91.

Article  Google Scholar 

Monks S, Niarchou M, Davies AR, Walters JT, Williams N, Owen MJ, et al. Further evidence for high rates of schizophrenia in 22q11. 2 deletion syndrome. Schizophrenia Res. 2014;153(1–3):231–6.

Article  Google Scholar 

Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999;56:940–5.

Article  CAS  PubMed  Google Scholar 

Schneider M, Debbané M, Bassett AS, Chow EW, Fung WLA, van den Bree MB, et al. Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion Syndrome. Am J Psychiatry. 2014;171(6):627–39.

Article  PubMed  PubMed Central  Google Scholar 

Duijff SN, Klaassen PW, de Veye HFS, Beemer FA, Sinnema G, Vorstman JA. Cognitive development in children with 22q11. 2 deletion syndrome. Br J Psychiatry. 2012;200(6):462–8.

Duijff SN, Klaassen PW, de Veye HFS, Beemer FA, Sinnema G, Vorstman JA. Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: A prospective 6-year follow-up study. Res Dev Disabil. 2013;34(9):2937–45.

Article  PubMed  Google Scholar 

Vorstman JA, Breetvelt E, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, et al. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry. 2015;72(4):377–85.

Article  PubMed  PubMed Central  Google Scholar 

Schneider M, Armando M, Pontillo M, Vicari S, Debbane M, Schultze-Lutter F, et al. Ultra high risk status and transition to psychosis in 22q11.2 deletion syndrome. World Psychiatry. 2016;15(3):259–65.

Article  PubMed  PubMed Central  Google Scholar 

Tang SX, M MT, Calkins ME, Yi JJ, Savitt A, Kohler CG, et al. The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths. Biol Psychiatry. 2017;82(17):25.

Google Scholar 

Kwon JS, Shenton ME, Hirayasu Y, Salisbury DF, Fischer IA, Dickey CC, et al. MRI study of cavum septi pellucidi in schizophrenia, affective disorder, and schizotypal personality disorder. Am J Psychiatry. 1998;155(4):509–15.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nopoulos P, Swayze V, Flaum M, Ehrhardt JC, Yuh WTC, Andreasen NC. Cavum septi pellucidi in normals and patients with schizophrenia as detected by magnetic resonance imaging. Biol Psychiat. 1997;41:1102–8.

Article  CAS  PubMed  Google Scholar 

Bish JP, Pendyal A, Ding L, Ferrante H, Nguyen V, McDonald-McGinn D, et al. Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Neurosci Lett. 2006;399(3):245–8.

Article  CAS  PubMed  Google Scholar 

Chow EWC, Mikulis DJ, Zipursky RB, Scutt LE, Weksberg R, Bassett AS. Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia. Biol Psychiat. 1999;46:1436–42.

Article  CAS  PubMed  Google Scholar 

Eliez S, Schmitt JE, White CD, Wellis VG, Riss AL. A Quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biol Psychiat. 2001;49:540–6.

Article  CAS  PubMed  Google Scholar 

Van Amelsvoort T, Daly E, Henry J, Robertson D, Ng V, Owen M, et al. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia. Arch Gen Psychiatry. 2004;61:1085–96.

Article  PubMed  Google Scholar 

Baker K, Skuse DH. Adolescents and young adults with 22q11 deletion syndrome: Psychopathology in an at-risk group. Br J Psychiatry. 2005;186:115–20.