An Overview on Turner Syndrome: Literature Review

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Background: Aneuploidy is defined as the disturbance of the normal chromosomal amount. Normally, the human cell contains 46 chromosomes, however, in fetuses with aneuploidy, it might increase or decrease beyond the normal level. Turner syndrome is a complex genetic condition in which a female fetus suffers from a complete or partial loss if an X chromosome. Objectives: In this paper, we will review the available literature discussing the features, diagnosis, and management of Turner syndrome. Methodology: We conducted the literature search within the PubMed database using the keywords: “turner syndrome” and “X-monosomy” and “genetics” and “cognitive-behavioral” and “psychosocial” with dates from 1990 to 2020. Review: TS constitute a partially or completely loss of X-chromosome. Almost half of the patients with TS possess a non-mosaic karyotype. Among the most commonly reported physical feature of TS include decreased adult height, infertility, increase blood pressure, and micrognathia. Conclusion: In conclusion, TS is one of the most common chromosomal abnormalities that affect females. Early detection through characteristic physical and clinical features could have a massive impact on the function of affected individuals later in their lives.