Edwards syndrome
26-02-2024
09:13 AM
1 min read
Overview:
Researchers have reported chromosomal disorders discovered from prehistoric skeletal remains, dating up to approximately 5,500 years old — including six cases of Down syndrome and one case of Edwards syndrome.
About Edwards syndrome
- It is also known as trisomy 18.
- It is an autosomal chromosomal disorder due to an extra copy of chromosome 18.
- It is a very severe genetic condition that affects child’s body development and growth.
- Symptoms: Children diagnosed with trisomy 18 have a low birth weight, multiple birth defects and defining physical characteristics.
- There are three types of Edwards syndrome
- Complete trisomy 18:
- It is the most common form (94%).
- In this type, every cell contains three complete copies of chromosome 18.
- The extra chromosome is most often of maternal origin.
- Mosaic trisomy 18:
- It is the second most common type (less than 5%).
- In this type, both a complete trisomy 18 and a normal cell line exist.
- Partial trisomy 18:
- In this type, only a partial segment of chromosome 18 is present in triplicate.
- The partial triplicate often results from a balanced translocation or inversion carried by one of the parents.
- Treatment: There are no specific treatments for trisomy 18. Treatment will focus on the symptoms of the condition, such as heart conditions, breathing difficulties and infections.
Q1) What is Chromosome?
Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell. In plants and animals (including humans), chromosomes reside in the nucleus of cells.
Source: Down syndrome, Edwards syndrome found in ancient individuals