Related Experiment Video
Updated: Mar 10, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
14.4K
Edwards' syndrome
Doreen Crawford1, Annette Dearmun2
1Independent health consultancy.
Nursing Children and Young People
|December 9, 2016
Summary
Edwards
Area of Science:
- Genetics
- Developmental Biology
- Fetal Medicine
Background:
- Edwards' syndrome (Trisomy 18) is a severe chromosomal abnormality.
- It significantly impacts embryonic development, cellular function, and organogenesis.
- Understanding its genetic basis is crucial for prenatal diagnosis and management.
Purpose of the Study:
- To elucidate the fundamental cellular and developmental consequences of Edwards' syndrome.
- To provide insights into the genetic underpinnings of organogenesis defects in Trisomy 18.
- To highlight the prevalence and demographic characteristics of affected infants.
Main Methods:
- Review of existing genetic and developmental biology literature.
- Analysis of case studies and genetic databases.
- Comparative analysis of cellular functions in affected versus unaffected fetuses.
Main Results:
- Edwards' syndrome profoundly disrupts fetal cellular functions.
- Significant abnormalities in tissue development and organogenesis are characteristic.
- The condition affects infants across all races, with a higher incidence in females.
Conclusions:
- Edwards' syndrome presents a complex interplay between genetic factors and developmental processes.
- Early identification and understanding of its impact on fetal development are critical.
- Further research into Trisomy 18 mechanisms can inform genetic counseling and potential interventions.
More Related Videos
Related Concept Videos
01:19Autism Spectrum Disorder
1.5K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.5K
01:49Meiosis I
221.0K
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...
221.0K
02:30Genomic Imprinting and Inheritance
38.3K
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...
38.3K
01:11Genetic Lingo
116.6K
Overview
116.6K
01:19X-linked Traits
59.2K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.2K
01:21Nondisjunction
5.5K
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...
5.5K