herenciageneticayenfermedad: Noteworthy - Genetics Home Reference

miércoles, 6 de marzo de 2019

Noteworthy - Genetics Home Reference - NIH

Noteworthy - Genetics Home Reference - NIH

Genetics Home Reference, Your Guide to Understanding Genetic Conditions

March is Trisomy Awareness Month

Trisomy Awareness Month is observed in March to promote knowledge of trisomy conditions and to enhance support and care for affected individuals and their families.

People with a trisomy condition have three copies of a particular chromosome in cells instead of the usual two copies. Normally, human cells contain 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Individuals with a trisomy condition have an extra copy of a chromosome for a total of 47 chromosomes in each cell. A change in the number of chromosomes can occur during the formation of reproductive cells (eggs and sperm) or in early fetal development.

Down syndrome, also known as trisomy 21, is an example of a condition caused by trisomy. People with Down syndrome typically have three copies of chromosome 21 in each cell. Down syndrome occurs in about 1 in 800 newborns and is associated with intellectual disability, a characteristic facial appearance, and an increased risk of health problems such as heart defects.

Additional examples of trisomy conditions are those caused by an extra copy of chromosome 13, 18, or the sex chromosomes X or Y. These conditions vary in severity, but they usually cause problems with growth and development and can affect many of the body's systems.

Trisomy Awareness Month is a time to bring awareness to the need for support of individuals with trisomy conditions and their families, not only at the time of diagnosis but throughout their lives.