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J Pediatr Genet 2023; 12(04): 263-272
DOI: 10.1055/s-0043-1770982
Review Article

Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

Marisol Ibarra-Ramírez 
1   Department of Genetics, “Dr. José Eleuterio González” University Hospital of the Autonomous University of Nuevo León, Monterrey, México
,
Luis Daniel Campos-Acevedo 
1   Department of Genetics, “Dr. José Eleuterio González” University Hospital of the Autonomous University of Nuevo León, Monterrey, México
,
Laura E. Martínez de Villarreal 
1   Department of Genetics, “Dr. José Eleuterio González” University Hospital of the Autonomous University of Nuevo León, Monterrey, México
› Author Affiliations Funding None.
› Further Information
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Abstract

Turner syndrome (TS) is caused by the total or partial loss of the second sex chromosome; it occurs in 1 every 2,500–3,000 live births. The clinical phenotype is highly variable and includes short stature and gonadal dysgenesis. In 1959, the chromosomal origin of the syndrome was recognized; patients had 45 chromosomes with a single X chromosome. TS presents numerical and structural abnormalities in the sex chromosomes, interestingly only 40% have a 45, X karyotype. The rest of the chromosomal abnormalities include mosaics, deletions of the short and long arms of the X chromosome, rings, and isochromosomes. Despite multiple studies to establish a relationship between the clinical characteristics and the different chromosomal variants in TS, a clear association cannot yet be established. Currently, different mechanisms involved in the phenotype have been explored. This review focuses to analyze the different chromosomal abnormalities and phenotypes in TS and discusses the possible mechanisms that lead to these abnormalities.

Keywords

Turner syndrome - X chromosome - X chromosome monosomy


Publication History

Received: 28 March 2022

Accepted: 01 June 2023

Article published online:
21 July 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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