Further Reading

Information from our Clinic

Leaflet on 22q11.2DS and the Dalglish Clinic.

Pamphlet for health professionals (Updated April, 2017)

  • To print a booklet, please use this version. If you are using a duplex printer, please select "Print on both sides of the paper" and "Flip on short edge".

22q11.2 deletion syndrome (22q): Help for people with an under-recognized condition
Palmer L and D'Arcy S
The International Journal for Direct Support Professionals (2018) Volume 7 issue 2

[Return to top]

22q11.2 Deletion Syndrome (McDonald-McGinn et al., 2015)

22q11.2 deletion syndrome
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS.
Nature Reviews Disease Primers (2015) 1:15071.
doi: 10.1038/nrdp.2015.71.

  • This extensive review on 22q11.2DS is available for free.

[Return to top]

Practical guidelines for managing adults with 22q11.2 deletion syndrome (Fung et al., 2015)

Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L7, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS.
Genet Med. (2015) 17(8):599-609. doi: 10.1038/gim.2014.175.

[Return to top]

Practical guidelines for managing patients with 22q11.2 deletion syndrome (Bassett et al., 2011)

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium.
J Pediatr. (2011) 159(2):332-9.e1.
doi: 10.1016/j.jpeds.2011.02.039

[Return to top]

Consensus Document on 22q11 Deletion

Consensus Document on 22q11 Deletion Syndrome (22q11DS) by MaxAppeal.

[Return to top]

Additional reviews and articles

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
McDonald-McGinn DM1, Sullivan KE.
Medicine (Baltimore). (2011) 90(1):1-18.
doi: 10.1097/MD.0b013e3182060469.

  • Access to this document may require subscription

American Journal of Medical Genetics - Special Issue on 22q11.2DS (November 2018)

[Return to top]