Clinical manifestations of DiGeorge's syndrome

Authors

DOI:

https://doi.org/10.35381/s.v.v8i1.3818

Keywords:

DiGeorge syndrome, coronary vessel anomalies, heart defects congenital, (Source: DeCS)

Abstract

Objective: To describe the different signs and symptoms of DiGeorge syndrome in order to better understand this disease. Method: Descriptive documentary, 15 articles published in PubMed were analyzed. Conclusion: Within the chromosomal region 22q11.2 several genes have been associated with the phenotypes of congenital anomalies, some of which require surgical procedures depending on the severity of the heart disease. The main cardiac defects with prevalence and percentages of some alterations caused by this syndrome were evidenced, among the most important are the aortic arch, truncus arteriosus and tetralogy of Fallot.

Downloads

Download data is not yet available.

References

Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023;25(3):100338. https://doi.org/10.1016/j.gim.2022.11.006

Bartik LE, Hughes SS, Tracy M, et al. 22q11.2 duplications: Expanding the clinical presentation. Am J Med Genet A. 2022;188(3):779-787. https://doi.org/10.1002/ajmg.a.62577

Cirillo A, Lioncino M, Maratea A, et al. Clinical Manifestations of 22q11.2 Deletion Syndrome. Heart Fail Clin. 2022;18(1):155-164. https://doi.org/10.1016/j.hfc.2021.07.009

Altshuler E, Saidi A, Budd J. DiGeorge syndrome: consider the diagnosis. BMJ Case Rep. 2022;15(2):e245164. https://doi.org/10.1136/bcr-2021-245164

Biggs SE, Gilchrist B, May KR. Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management. Curr Allergy Asthma Rep. 2023;23(4):213-222. https://doi.org/10.1007/s11882-023-01071-4

Bayat M, Bayat A. Neurological manifestation of 22q11.2 deletion syndrome. Neurol Sci. 2022;43(3):1695-1700. https://doi.org/10.1007/s10072-021-05825-8

Zou XY, Chao YQ, Zeng LH, Zou CC. Prader-Willi Syndrome Coincident with DiGeorge Syndrome. Indian J Pediatr. 2020;87(6):471-472. https://doi.org/10.1007/s12098-019-03137-6

Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023;25(3):100344. https://doi.org/10.1016/j.gim.2022.11.012

Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020;184(1):64-72. https://doi.org/10.1002/ajmg.c.31774

Szczawińska-Popłonyk A, Schwartzmann E, Chmara Z, et al. Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach. Int J Mol Sci. 2023;24(9):8317. https://doi.org/10.3390/ijms24098317

Zalewska E, Gnacińska-Szymańska ME, Obołończyk Ł, Sworczak K. Coexistence of DiGeorge syndrome with Fahr syndrome, mosaic Turner syndrome and psychiatric symptoms - a case report. Zaburzenia psychiatryczne u pacjentki z zespołem DiGeorge’a, zespołem Fahra i zespołem Turnera – opis przypadku. Psychiatr Pol. 2021;55(2):397-404. https://doi.org/10.12740/PP/119376

Lu N, Kacin AJ, Shaffer AD, Stapleton AL. Otorhinologic Disorders in 22q11.2 Deletion Syndrome. Otolaryngol Head Neck Surg. 2023;169(4):1012-1019. https://doi.org/10.1002/ohn.331

Motahari Z, Moody SA, Maynard TM, LaMantia AS. In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?. J Neurodev Disord. 2019;11(1):7. https://doi.org/10.1186/s11689-019-9267-z

Khan TA, Revah O, Gordon A, et al. Neuronal defects in a human cellular model of 22q11.2 deletion syndrome. Nat Med. 2020;26(12):1888-1898. https://doi.org/10.1038/s41591-020-1043-9

Praus P, Braun U, Bleich M, Meyer-Lindenberg A, Hennig O. Heterogene neuropsychiatrische Phänotypen bei zwei erwachsenen Patient*innen mit 22q11.2-Deletionssyndrom (DiGeorge-Syndrom): ein Fall für RDoC? [Heterogeneous neuropsychiatric phenotypes in two adult patients with 22q11.2 deletion syndrome (DiGeorge's syndrome): a case for RDoC?]. Nervenarzt. 2022;93(5):483-487. https://doi.org/10.1007/s00115-021-01226-6

Published

2024-02-01

How to Cite

Velásquez-Toro , S. J., Guzmán-Ramos, E. D., Arellano-Oleas, Y. E., & López-Barrionuevo, C. G. (2024). Clinical manifestations of DiGeorge’s syndrome. Revista Arbitrada Interdisciplinaria De Ciencias De La Salud. Salud Y Vida, 8(1), 709–715. https://doi.org/10.35381/s.v.v8i1.3818

Issue

Section

Original breve

Most read articles by the same author(s)