Resources for Healthcare Professionals

Because the 22q11.2 deletion is such a rare disorder, even many healthcare professionals may find themselves at a loss when it comes to diagnosing and managing it. To make it easier for busy pediatricians, primary care physicians and subspecialists who need more information about the 22q11.2 deletion, we've gathered a list of valuable related articles, categorized by topic.

Please feel free to contact us if you have any questions about the resources listed here.


Goldmuntz E, Driscoll DA, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet. 1993;30:807-12.

Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32:492-98.

McElhinney DB, Clark BJ, Weinberg PM, Kenton ML, McDonald-McGinn D, Driscoll DA, Zackai EH, Goldmuntz E. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol. 2001;37:2114-9.

McElhinney DB, McDonald-McGinn D, Zackai EH, Goldmuntz E. Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond six months of age. Pediatrics. 2001;108(6):E104.

Marino B, Diglio MC, Versacci P, Anaclerio S, Dallapiccola B. [Transposition of great arteries. Understanding its pathogenesis] Ital Heart J. Feb 2002;3 (2 Suppl): 154-160. (Italian)

Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene. Eur J Hum Genet. Apr 2003;11(4):349-51.

Cleft Palate

McDonald-McGinn DM, Driscoll D, Emanuel BS, Goldmuntz E, Clark BJ III, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics. 1997;99:1/5.


Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH. Growth hormone deficiency in patients with a 22q11.2 deletion: Expanding the phenotype. Pediatr. 1998;101:929-932.

Van den Bosch MA, Wittebol S, van Dijk H, Kramer MH. Hypocalcemic tetany as an early sign of DiGeorge syndrome in adult woman. Am J Med Genetics. February 2002;1;112(2):161-162.


Driscoll DA, Salvin J, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DGS and VCFS: implications for genetic counseling and prenatal diagnosis. J Med Genet. 1993;30:813-17.

Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet. 1995;4(4):763-66.

McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark BJ, Emanuel BS, Zackai EH. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet. 1995;59:103-13.

Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. Nasal dimple as part of the 22q11.2 deletion syndrome. Am J Med Genet. 1997;69:290-92.

Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elics ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Skeletal anomalies in patients with deletions of 22q11. Am J Med Genet .1997; 72:210-215.

McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ III, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing. 1997;1:99-108.

McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, LaRossa D, Emanuel BS, Zackai EH. The Philadelphia Story: The 22q11.2 Deletion: Report on 250 Patients. Genetic Counseling. 1999;10:11-24.

Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. The 22q11.2 deletion syndrome. Advances in Pediatrics. 2001;48:39-73.

Sandrin-Garcia P, Macedo C, Martelli L, Ramos E, Guion-Almeida M, Richieri-Costa A, Passoss G. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clinical Genetics. May 2002;61(5):380-83.


Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. JRA-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis and Rheumatism. 1997; 40:430-436.

Keenan GF, Sullivan KE, McDonald-McGinn DM, Zackai EH. Letter to the editor: Arthritis associated with 22q11.2: more common than previously suspected. Am J Med Genet. 1997;71:488.

Sullivan KE, Jawad AF, Randall P, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol. 1998;86:141-46.

Smith CA, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH, Sullivan KE. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/Velocardiofacial syndrome). Clin Diagn Lab Immunol. 1998;5:415-17.

Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103:1020-5.

Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn DM. Graves' disease in patients with 22q11.2 deletion. J of Peds. 2001;139(6):892-5.

Gennery AR, Barge D, O'Sullivan JJ, Flood TJ, Abinun M, Cant AJ. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. June 2002;86(6): 422-25.

Chinen J, Rosenblatt HM, Smith EO, Shearer WT, Noroski LM. Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol. 2003 Mar;111(3):573-9.

Pelkonen P, Lahdenne P, Lantto R, Honkanen V. Chronic arthritis associated with chromosome deletion 22q11.2 syndrome. J Rheumatol. 2002 Dec; 29(12):2648-50.

Perez E, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr. 2002 Dec; 14(6):678-83. Review.

Pierdominici M, Mazzetta F, Caprini E, Marziali M, Digilio MC, Marino B, Aiuti A, Amati F, Russo G, Novelli G, Pandolfi F, Luzi G, Giovannetti A. Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Exp Immunol. 2003 May; 132(2):323-31.

Jawad AF, McDonald-McGinn DM, Zackai E, Suliivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatrics. November 2002; 139(5): 715-723.

Sullivan KE, McDonald-McGinn D, Driscoll DA, Emanuel BS, Zackai EH, Jawad AF. Longitudinal analysis of lymphocyte function and production in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). J Pediatrics. 1999; 6:906-911.

Molecular Genetics

Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MD, Mascarelo JT, Emanuel BS. Deletions and microdeletions of 22q11.2 in Velo-Cardio-Facial syndrome. Am J Med Genet. 1992;44:261-68.

Shaikh TH, Kurahashi H, Saitta SC, Hu P, Rose BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000; 9:489-501.

Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet. 2003; 13:417-28.

Gebhardt GS, Devriendt K, Thoelen R, Swillen A, Pijkels E, Gewillig M, Fryns JP, Vermeesch JR. No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. Eur J Hum Genet. 2003 Feb; 11(2):109-11.

Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, von der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-de Groot AC, Scambler P, Morrow B, Driscol DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med. 2003 Feb; 9(2):173-82.

Gong W, Gottleib S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genetics. December 2001;38(12): E45.


Lynch DR, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KA. Cerebellar atrophy in a patient with velocardiofacial syndrome. Am J Med Genet. 1995; 32:561-563.

Bingham P, Zimmerman RA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH. Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. Am J Med Genet Neuropsych Genet .1997; 74:538-543.

Bingham PM, Lynch D, McDonald-McGinn D, Zackai E. Polymicrogyria in chromosome 22 deletion syndrome. Neurology. 1998; 51:1500-2.


Wang P, Solot C, Gerdes M, Moss E, Driscoll D, Emanuel B, McDonaldMcGinn DM, Zackai EH. Developmental presentation of 22q11.2 deletion. J Devel Behav Pediatr. 1998;19:342-45.

Gerdes M, Solot C, Wang PP, McDonald-McGinn DM, Zackai EH. Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion. Genet Med. 2001;3:40-44.

Bearden CE, Woodin MF, Wang PP, Moss E, McDonald-McGinn D, Zackai E, Emanuel B, Cannon TD. The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J of Clin & Exper Neuropsychology. 2001; 23(4):447-64.

Maharasingam M, Ostman-Smith I, Pike MG. A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery. Arch Dis Child. 2003 Jan; 88(1):61-4.


Solot C, Knightly C, Handler S, McDonald-McGinn D, Gerdes M, Moss E, Wang P, Cohen M, Randall P, LaRossa D, Driscoll d, Emanuel B, Zackai E. Communication disorders in the 22q1.2 microdeletion syndrome. J Communication Disorders. 2000; 33:187-204.


Eicher PS, McDonald-McGinn DM, Fox CA, Driscoll DA, Emanuel BS, Zackai EH. Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J Peds. 2000; 137:158-64.

Dyce O, McDonald-McGinn D, Kirschner RE, Zackai E, Young K, Jacobs IN. Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg. 2002; 128:1408-12.

Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Peds. 2003 Aug 143(2):277-278.

Shashi V, Berry MN, Hines MH. Vasomotor instability in neonates with chromosome 22q11 deletion syndrome. Am J Med Genet. 2003 Sep 1; 121A(3):231-4.

Vantrappen G, Rommel N, Swillen A, Cremers CW, Fryns JP, Devriendt K. Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ENT manifestations. Acta Otorhinolaryngol Belg. 2003;57(2):101-6.

Wu HY, Rusnack SL, Bellah RD, Plachter N, McDonald-McGinn DM, Zackai EH, Canning DA. Genitourinary malformations in chromosome 22q11.2 deletion. J Urol. 2002 Dec;168(6):2564-5.