Further Reading

Pamphlets from our Clinic

[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. (2015) Nature Reviews Disease Primers 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.(2015) Genet Med. 17(8):599-609. doi: 10.1038/gim.2014.175.

This article is available for free.

[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. (2011) J Pediatr. 159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039

This article is available for free.

This article is also available in Spanish (text and tables) and Dutch (full article)

[Return to top]

Consensus Document on 22q11 Deletion

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

This document is also available in Spanish (full article).

[Return to top]

22q11.2DS review (McDonald-McGinn and Sullivan, 2011)

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Note: Access to this document may require subscription

[Return to top]