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Case Reports
. 2011 Aug;159(2):332-9.e1.
doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12.

Practical guidelines for managing patients with 22q11.2 deletion syndrome

Anne S Bassett  1 , Donna M McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan, Ann Swillen, Jacob Vorstman; International 22q11.2 Deletion Syndrome Consortium
Collaborators, Affiliations
Case Reports

Practical guidelines for managing patients with 22q11.2 deletion syndrome

Anne S Bassett et al. J Pediatr. 2011 Aug.
No abstract available

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure
Figure
Mild dysmorphic facial features of a boy aged 11 years with 22q11.2DS, including a short forehead, hooded eyelids with upslanting palpebral fissures, malar flatness, bulbous nasal tip with hypoplastic alae nasi, and protuberant ears.
See this image and copyright information in PMC

References

    1. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79:348–51. - PMC - PubMed
    1. Tezenas Du Montcel ST, Mendizabal H, Ayme S, Levy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet. 1996;33:719. - PMC - PubMed
    1. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148–51. - PMC - PubMed
    1. McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14:69–74. - PubMed
    1. Cocchi G, Gualdi S, Bower C, Halliday J, Jonsson B, Myrelid A, et al. International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol. 2010;88:474–9. - PubMed

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