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
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.
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.
相关概念视频
Karyotyping
68.0K
Overview
68.0K
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
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
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 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...
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 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,...
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


