Trisomy 18 With Multiple Congenital Anomalies: A Rare Case Report

Authors

  • Hande Gizem Özalp Dicle University Medical School, Departmant of Pediatrics, Diyarbakır, Turkey

DOI:

https://doi.org/10.5281/zenodo.6857977

Keywords:

Trisomy 18, Congenital Anomalies, Genetic

Abstract

The most common congenital anomalies, autosomal aneuploidies are linked to a variety of metabolic diseases, hormone imbalances, neurotransmitter abnormalities, and intellectual difficulties. Chromosomal segregation mistakes that occur during cell division are what cause trisomies. A number of studies have revealed that numerous disrupted cellular processes are linked to uncontrolled gene expression brought on by the triplication of chromosomes 13 and 18. Furthermore, the occurrence of embryonic abnormalities may be linked to a disrupted oxidative stress condition. These chromosomal aberrations generate many congenital abnormalities such as heart defects, gastrointestinal defects, tracheoesophageal abnormalities, endocrine disorders, vision, and hearing disorders, and limb and nervous system anomalies. However, there are many theories and mechanisms regarding this issue. In this study, we aimed to present a case with multiple congenital anomalies born from a 38-year-old mother.

References

Jones K (Ed). Smith’sRecognizablePatterns of Human Malformation. Philadelphia: WB SaundersCompany; 2006: p. 13-17

Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 13 andtrisomy 18 in a defined population: Epidemiological, geneticand prenatal observations. PrenatDiagn 2003; 23: 856-860.

Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A newtrisomicsyndrome. Lancet 1960; 1: 787-790

Naguib KK, Al-Awadi SA, Bastaki L, et al. Clustering of Trisomy 18 in Kuwait: Geneticpredispositionorenvironmental? AnnSaudiMed 1999; 19: 197-200.

Nussbaum RL, Mclnnes RR, Willard HF. Principles of clinicalcytogenetics. In: McInnes RR (Ed). ThompsonandThompson Genetics in Medicine. Philadelphia: WB SaundersCompany; 2001: p. 140- 144.

Cereda A., Carey J.C. The trisomy 18 syndrome. Orphanet J. Rare Dis. 2012;7:81. doi: 10.1186/1750-1172-7-81.

Balasundaram P., Avulakunta I.D. Edward Syndrome. StatPearls Publishing; Treasure Island, FL, USA: 2021.

Pont S.J., Robbins J., Bird T., Gibson J.B., Cleves M.A., Tilford J.M., Aitken M.E. Congenital malformations among liveborn infants with trisomies 18 and 13. Am. J. Med. Genet. Part A. 2006;140A:1749–1756. doi: 10.1002/ajmg.a.31382.

Peterson J., Kochilas L.K., Catton K.G., Moller J.H., Setty S.P. Long-Term Outcomes of Children With Trisomy 13 and 18 After Congenital Heart Disease Interventions. Ann. Thorac. Surg. 2017;103:1941–1949. doi: 10.1016/j.athoracsur.2017.02.068.

Roberts W., Żurada A., Zurada-Zielińska A., Gielecki J., Loukas M. Anatomy of trisomy 18. Clin. Anat. 2016;29:628–632. doi: 10.1002/ca.22725.

Morris J.K., Savva G.M. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am. J. Med. Genet. Part A. 2008;146A:827–832. doi: 10.1002/ajmg.a.32220.

Anderson C.E., Punnett H.H., Huff V., De Chadarévian J.-P. Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18. Am. J. Med. Genet. Part A. 2003;121A:52–55. doi: 10.1002/ajmg.a.20141.

Khan F., Jafri I. Characterization of a 16-Year-Old Long-Time Survivor of Edwards Syndrome. Cureus. 2021;13:e15205. doi: 10.7759/cureus.15205.

Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. 2003. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111:777–784.

Pont S.J., Robbins J., Bird T., Gibson J.B., Cleves M.A., Tilford J.M., Aitken M.E. Congenital malformations among liveborn infants with trisomies 18 and 13. Am. J. Med. Genet. Part A. 2006;140A:1749–1756. doi: 10.1002/ajmg.a.31382.

Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S. 1996. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 75:F38–F41.

Kelly M, Robinson BW, Moore JW. Trisomy 18 in a 20- year-old woman. Am J MedGenet 2002; 112: 397–399

Narlı N, Satar M, Süleymanova D. Trizomi 18 (Edward’ssendromu): Üç olgu sunumu. Klinik Gelişim Dergisi 1998; 11: 486-489

Nyberg DA, Kramer D, Resta RG. Prenatal sonographicfindings of trisomy 18: Rewiew of 47 cases. J UltrasoundMed 1993; 12:103.

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Published

2022-07-20

How to Cite

1.
Özalp HG. Trisomy 18 With Multiple Congenital Anomalies: A Rare Case Report. J Clin Trials Exp Investig [Internet]. 2022 Jul. 20 [cited 2024 Mar. 29];1(1 March-June):28-31. Available from: https://jctei.com/index.php/jctei/article/view/8