在产前被诊断出部分三胞体4p综合征
Kaouther Nasri1, Nadia Ben Jamaa2, Ines Ouertani3
1Service of Embryo-Fetopathology, Center for Maternity and Neonatology of Tunis, Faculty of Medicine, Tunis El Manar University, Tunis, Tunisia.
Fetal and pediatric pathology
|November 11, 2023
概括
三胞胎症4p是一种致命的遗传性疾病,在产前通过超声波诊断. 这使父母能够终止怀孕,提供了关键的生殖选择.
科学领域:
- 遗传学 遗传学 是一个
- 产前诊断 在产前诊断
- 医学超声波 医学超声波
背景情况:
- 三胞胎症4p是一种严重的染色体疾病.
- 产前诊断对于生殖决策至关重要.
研究的目的:
- 报告一个在第一季度诊断为部分三发症4p.的病例.
- 突出超声波在检测染色体异常中的作用.
主要方法:
- 第一个三个月的超声波测量上半透明度.
- 型定型以确认部分三发症4p,并确定父母转位.
主要成果:
- 在妊娠的第一季度检测到部透明度的增加.
- 确认了从父亲平衡转位遗传的部分三发症4p.
- 启用知情决定终止怀孕.
结论:
- 第一个三个月的鼻透光可以表明三症4p.
- 父亲转位增加了不平衡染色体变化的复发风险.
- 遗传咨询和产前诊断对于受影响的家庭至关重要.
相关概念视频
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
Karyotyping
61.4K
Overview
61.4K
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
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
Meiosis vs. Mitosis
56.7K
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...
56.7K
Pleiotropy
40.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.5K


