Trisomy 18 With Multiple Congenital Anomalies: A Rare Case Report

Hande Gizem Özalp

doi:10.5281/zenodo.6857977

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.

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