相关实验视频
Updated: Jul 10, 2026

07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
一份关于特纳综合征非典型染色体变异的病例报告
Farnoush Aliazami1, Dariush D Farhud2,3, Marjan Zarif-Yeganeh4
1Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Molecular cytogenetics
|February 20, 2026
概括
本病例报告详细介绍了一种罕见的马赛克特纳综合征 (TS) 变体,呈现为原发性异常流产. 这些发现强调了在没有典型特征的女性中调查TS的重要性.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 生殖医学 生殖医学
背景情况:
- 特纳综合征 (TS) 是一种染色体异常,约1200至2500例女性出生中就有1例发生,其特点是缺少一个X染色体.
- TS变体可以呈现出各种临床表现,具有挑战性的诊断.
- 主要异常,或缺少初潮,可以是潜在遗传条件的指标.
研究的目的:
- 报告一个特纳综合征病例与新型X染色体删除.
- 在一个21岁的女性中调查原发性异常症的细胞遗传基础.
- 强调在非典型呈现中考虑罕见的TS变体的重要性.
主要方法:
- 临床病例审查,重点关注一名21岁的女性,呈现出一次性异常.
- 细胞遗传学研究包括型分析.
- 对X染色体结构的详细分析.
主要成果:
- 型分析显示了特纳综合征的马赛克形式: [46,X,del(X)(q24) [22]/45,X[28]].
- 在X染色体的长臂上发现了一种新的缺失 (del ((X) ((q24).
- 这位患者出现了原发性 amenorrhea,没有与特纳综合征相关的典型异形特征.
结论:
- 这一案例凸显了特纳综合征变体可以表现为月经障碍,即使没有经典的身体特征.
- 罕见的特纳综合征变体需要进一步调查,以了解基因型-表型相关性.
- 早期和准确的TS变体诊断对于适当的管理和遗传咨询至关重要.
更多相关视频
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
11:08Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
相关概念视频
Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
X and Y Chromosomes
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...