Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Karyotyping01:17

Karyotyping

68.0K
Overview
68.0K
Meiosis I01:49

Meiosis I

217.2K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
217.2K
Nondisjunction01:21

Nondisjunction

4.7K
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...
4.7K
Nondisjunction01:29

Nondisjunction

81.6K
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.
81.6K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.8K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.8K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.6K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.6K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

The Utility of Routine Postoperative Radiographs Following Surgical Treatment of Traumatic Cervical Spine Injuries.

Journal of clinical medicine·2026
Same author

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Genes·2026
Same author

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report.

Case reports in pediatrics·2026
Same author

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

American journal of human genetics·2025
Same author

Corrigendum: "Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome" EBioMedicine, 2025, Feb:112:105578.

EBioMedicine·2025

相关实验视频

Updated: Jan 6, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.5K

在Trisomy 18中的最新消息

Keerthana Srinivasan1, Christian Canarte1, Samuel David Amio Valientes2

  • 1Division of Neonatology, Department of Pediatrics, Harbor-UCLA, Los Angeles, California.

NeoReviews
|November 30, 2025
PubMed
概括

三胞胎症18曾经被认为是致命的疾病,现在由于增加了医疗干预措施,新生儿的长期结果得到了改善. 本综述更新了对三症18 (爱德华兹综合征) 的理解,并指导了未来的护理.

更多相关视频

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

83.6K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.7K

相关实验视频

Last Updated: Jan 6, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.5K
Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

83.6K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.7K

科学领域:

  • 遗传学 遗传学 是一个
  • 儿科 儿科 儿科
  • 医学遗传学 医学遗传学

背景情况:

  • 形形状症是常见的儿科遗传异常,三位体13,18和21是最常见的.
  • 历史上,三位体13和18与高发病率和死亡率有关,通常被标记为"致命"的疾病.
  • 三位症21 (唐氏综合征) 已有充分记录的长期结果,与三位症13和18不同.

研究的目的:

  • 审查18型三体综合征的临床表现.
  • 探索患有三症 18 的新生儿的最新长期结果.
  • 为了提供指导,未来的医学监测三症 18.

主要方法:

  • 临床表现和结果的文献综述.
  • 对产后干预和共享决策的趋势进行分析.
  • 综合当前关于长期生存和生活质量的证据.

主要成果:

  • 有证据表明,18型三综合症的新生儿的长期结果正在改善.
  • 由以家庭为中心的护理驱动的产后干预增加,有助于获得更好的结果.
  • 由于新出现的数据,人们对18型三症的历史认知被挑战为统一的"致命性".

结论:

  • 三胞胎瘤18并不是统一的"致命"条件,有改善的生存率.
  • 家庭和医疗团队之间的共同决策对于提高结果至关重要.
  • 更新的医疗监测策略是必要的,以应对不断增长的三综合症18个体的人口.