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".

Do you have adult patients with 22q?

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

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Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management (Solot et al., 2019)

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Solot CB, Sell D, Mayne A, Baylis AL, Persson C, Jackson O, McDonald-McGinn DM.
Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-999.
doi: 10.1044/2019_AJSLP-16-0147. Epub 2019 Jul 22.

  • Access to this document may require subscription. Please contact our Clinic if you need assistance.

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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.

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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.

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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

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Consensus Document on 22q11 Deletion

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

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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. Please contact our Clinic if you need assistance.

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

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