Paeds Vivas · genetics-dysmorphology-and-metabolism
22q11.2 deletion syndrome — branching viva
Branching viva on 22q11.2 deletion syndrome: recognising the multisystem fingerprint that earns a chromosomal microarray, staging every system at diagnosis, deferring live vaccines until the immune system is mapped, and managing the acute neonatal presentations and the adolescent psychiatric risk.
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Target exams
RACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
Neonatal unit: a twenty-four-hour-old term infant with respiratory distress, weak femoral pulses, a conotruncal cardiac lesion on echocardiogram, a cleft of the soft palate, a bulbous nasal tip, and a corrected calcium of 1.5 mmol per litre, in whom a standard karyotype is normal. The examiner asks: what is the diagnosis, which test confirms it and why was the first one inadequate, and what is the immediate and long-term plan — then branches to the live-vaccine question, the immune staging, and finally to the same child as an adolescent with new psychiatric symptoms.
Opening question
A twenty-four-hour-old infant has a conotruncal cardiac lesion, a cleft palate, a characteristic face, a corrected calcium of 1.5 mmol per litre, and a normal standard karyotype. What is the diagnosis, which investigation confirms it, and why was the karyotype inadequate? [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
- [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
- [12]Cleynen I, Engchuan W, Hestand MS, et al. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Mol Psychiatry, 2021.PMID 32015465