[唐氏综合征起源的危险因素]
Aurora Blanco-Montaño1, Monserrat Ramos-Arenas1, Bryssia Adilene Yerena-Echevarría1
1Instituto de Estudios Superiores de Tamaulipas, Campus Tamaulipas, Escuela de Medicina. Altamira, Tamaulipas, México.
Revista medica del Instituto Mexicano del Seguro Social
|September 28, 2023
概括
唐氏综合症 (DS) 是智力障碍的常见原因,由三症21引起. 虽然有多种因素的贡献,但母亲的晚年仍然是这种染色体状况的主要确定的危险因素.
科学领域:
- 遗传学 遗传学 是一个
- 人类生物学 人类生物学
- 生殖健康 生殖健康
背景情况:
- 唐氏综合征 (DS) 是全球最常见的自体形形,导致智力障碍.
- 它的临床变异性和表型严重程度源于多因素的起源.
- 在全球范围内,患病率约为每700例活产中的1例.
研究的目的:
- 审查和更新有关导致唐氏综合征细胞遗传起源的风险因素的知识.
- 探索三症21的病因,重点关注最近的发现.
主要方法:
- 2022年1月至6月期间出版的文学作品的叙事评论.
- 在主要数据库 (PubMed,EBSCO等) 中进行的搜索. 使用术语:唐氏综合征,危险因素,预防.
- 收录标准:过去10年的文章,英语和西班牙语.
主要成果:
- 没有任何一个单一的风险因素能够明确地导致21号染色体中介性或线粒性不分裂.
- 多种风险因素有助于细胞遗传倾向的三发性 21.
- 先进的母亲年龄 (≥35岁) 被证实是DS的主要确定的风险因素.
结论:
- 唐氏综合征的病因是复杂的,涉及多种贡献风险因素.
- 晚年母亲的年龄仍然是21型三发症的最重要的确诊风险因素.
- 对DS多因素起源的进一步研究是有必要的.
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
3.2K
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
25.9K
相关概念视频
Meiosis vs. Mitosis
56.9K
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...
56.9K
Meiosis I
193.7K
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...
193.7K
Nondisjunction
75.7K
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.
75.7K
Karyotyping
61.6K
Overview
61.6K
Biological Causes of Schizophrenia
71
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
71
Genomic Imprinting and Inheritance
34.6K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.6K
