Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-07-21 eCollection Date: 2023-12-01 DOI:10.1055/s-0043-1770982

Marisol Ibarra-Ramírez, Luis Daniel Campos-Acevedo, Laura E Martínez de Villarreal

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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.

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特纳综合征的染色体异常：最新进展。

特纳综合征（Turner Syndrome，TS）是由第二条性染色体全部或部分缺失引起的，每 2,500-3,000 名活产婴儿中就有一名特纳综合征患者。临床表型变化很大，包括身材矮小和性腺发育不良。1959 年，该综合征的染色体来源得到确认；患者有 45 条染色体，其中只有一条 X 染色体。TS 表现为性染色体数目和结构异常，有趣的是，只有 40% 的患者具有 45 X 染色体核型。其余的染色体异常包括镶嵌、X 染色体短臂和长臂缺失、环和异染色体。尽管有多项研究旨在确定 TS 的临床特征与不同染色体变异之间的关系，但目前还无法确定两者之间的明确关联。目前，人们已对表型所涉及的不同机制进行了探讨。本综述将重点分析 TS 的不同染色体异常和表型，并讨论导致这些异常的可能机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.