Practical guidelines for managing patients with 22q11.2 deletion syndrome - PubMed (original) (raw)
Case Reports
. 2011 Aug;159(2):332-9.e1.
doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12.
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
- PMID: 21570089
- PMCID: PMC3197829
- DOI: 10.1016/j.jpeds.2011.02.039
Case Reports
Practical guidelines for managing patients with 22q11.2 deletion syndrome
Anne S Bassett et al. J Pediatr. 2011 Aug.
No abstract available
Conflict of interest statement
The authors declare no conflicts of interest.
Figures
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.
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References
- McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14:69–74. - PubMed
- 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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