等色体
特纳综合征
遗传学
生物
表型
核型
X染色体
性腺发育不全
身材矮小
染色体
特纳综合征
基因
内分泌学
作者
Marisol Ibarra‐Ramírez,Luis Daniel Campos-Acevedo,L. Villarreal
出处
期刊:Journal of pediatric genetics
[Georg Thieme Verlag KG]
日期:2023-07-21
卷期号:12 (04): 263-272
标识
DOI:10.1055/s-0043-1770982
摘要
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.
科研通智能强力驱动
Strongly Powered by AbleSci AI