相关实验视频
Updated: Jul 1, 2025
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
36.8K
在新生儿胎儿的染色体平衡转位在产前诊断中发现:报告了三起病例
1The Second Hospital of Jilin University, Changchun City, Jilin Province, China.
Medicine
|March 8, 2024
概括
曾有形病史或患有21型三症高风险查的夫妇可以生出具有平衡染色体转位的健康婴儿. 产前诊断和遗传咨询对于这些病例至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 产前诊断 在产前诊断
- 生殖医学 生殖医学
背景情况:
- 平衡的染色体转位往往没有被诊断出来,直到相关的健康问题出现.
- 转位的个体可能会出现恶性瘤,反复流产或生殖挑战.
- 早期识别对于生殖规划和遗传咨询至关重要.
研究的目的:
- 报告通过侵入性产前诊断发现的初级平衡胎儿染色体转位.
- 为具有特定风险因素的夫妇提供产前诊断和遗传咨询的见解.
主要方法:
- 侵袭性产前诊断是对有发展形儿童史或21型三发症高风险查的夫妇进行的.
- 通过氨核细胞检测获得的胎儿细胞的型定型证实了平衡的染色体转位.
主要成果:
- 这三对夫妇都选择继续怀孕,尽管诊断出染色体异常.
- 出生后一年的随访表明,所有儿童的身体发育和智力都正常.
结论:
- 具有染色体平衡转位的健康新生儿可能是伴侣有不良母亲史或异常查的怀孕的结果.
- 这一案例系列为产前诊断和基因咨询提供了宝贵的经验,用于管理染色体平衡转位.
相关概念视频
01:17Karyotyping
60.4K
Overview
60.4K
01:29Nondisjunction
75.6K
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.
75.6K
02:57Meiosis vs. Mitosis
55.6K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
55.6K