Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel parents given a new diagnosis of 22q11.2 deletion syndrome — OSCE
OSCE communication and shared-planning station: breaking the news of a 22q11.2 deletion syndrome diagnosis confirmed after a neonatal cardiac presentation, explaining the multisystem nature and the meaning of the chromosomal microarray, outlining the live-vaccine rule and the age-based surveillance plan in plain language, and offering honest prognostic framing while addressing fear.
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You have eight minutes to counsel the parents of a four-day-old infant given a new diagnosis of 22q11.2 deletion syndrome, confirmed by chromosomal microarray after a tetralogy of Fallot was found. Use a structured, honest, empathic approach that names the multisystem nature of the condition and builds a shared plan. [1] [2]
References4ShowHide
- [1]McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers, 2015.PMID 27189754
- [2]Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr, 2011.PMID 21570089
- [6]Scheuerle AE, Geleske TA, Merchant N, et al. Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report. Pediatrics, 2025.PMID 40685150
- [9]Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A, 2018.PMID 29341423