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What are the genetics and the mode of inheritance of 22q11.2 deletion?
What ultrasound features on antenatal imaging may lead one to suspect 22q11.2 deletion?
suggestive reading references for the writing assingment
References:
Bassett, A.S et al. (2011) ‘Practical guidelines for managing patients with 22q11.2 deletion syndrome’, Journal of Paediatrics, 159(2), pp. 332-339.e1. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197829/pdf/nihms1816.pdf (Accessed 30 June 2022).
McDonald-McGinn, D.M. et al. for GeneReviews [Internet]. (Updated 2020) 22q11.2 Deletion Syndrome, [online]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1523/ (Accessed 30 June 2022).
Mogra, R. et al. (2016) ‘Identification and management of fetal isolated right-sided aortic arch in an unselected population’, Ultrasound in Obstetrics & Gynecology, 48(6), pp.739-743. Available at: https://doi.org/10.1002/uog.15892 (Accessed 30 June 2022).
National Organization for Rare Disorders. (2021) Chromosome 22q11.2 Deletion Syndrome, [online]. Available at: https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/ (Accessed 30 June 2022).
Schindewolf, E. et al. (2018) ‘Expanding the fetal phenotype: prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome’, Am J Med Genet A, 176(8), pp. 1735-1741. Available at: doi:10.1002/ajmg.a.38665 (Accessed 30 June 2022).
How would one fully counsel a patient about the management and long-term outcome of an isolated right aortic arch?
What are the advantages of achieving an antenatal diagnosis of RAA associated with 22q11.2 deletion?