Showing posts with label trisomy. Show all posts
Showing posts with label trisomy. Show all posts

Sunday, September 15, 2013

Genetics Down Syndrome

 Down Syndrome or trisomy 21,is a genetic variation where chromosome 21 usually has three copies in all cells of body.It can be also seen as trans location of chromosome 21.At the time of fertilization usually the process takes place.In some cases an extra copy of chromosome 21 in some cells and not all comes to the category of Mosaic Down syndrome.
                    This extra copy of genes is not only believed to break the genetic cycle of family but also in some cases,  my experience has seen rarest cases where i have found due to gene mutation family genetic line is not only affected but the blood group disparity of Down s Child diversified causing disparity in familial line.Researchers have never found a reason for same as blood group is connected to Gene 19 where there may be some other genetic condition that is linked between the two.But like many unexplained things this is a point of research till date.
                           Usually neither down syndrome is inherited nor it frequently repeats in further pregnancies.The chances of both the conditions are very low.Down syndrome baby may happen to anybody who is unaffected by himself and so are his generations.
It can be well detected by diagnostic tools in early pregnancy and can be prevented.







Friday, September 13, 2013

What Is Down Syndrome?


Down syndrome, also known as trisomy 21, is usually caused by the presence of all or part of a third copy of chromosome 21 and is thus called as trisomy. Down syndrome is the most commonly occurring chromosomal disorder . In United States one of 691 babies born per year one  is down syndrome.           It delays physical growth by affecting milestones and intellectual disability as well.They have average half the IQ of normal human beings.We can improve the quality of life by monitoring their health and mentoring their lifestyle.The disease was named after John Langdon Down in 1866,health care practitioner who clinically described the condition and researched over the disease.He found it was not merely a disease but found it is a clinical condition which affects many organs and thus decribed it as syndrome.It can be well seen in prenatal screenings and usually terminated as low socially acceptable condition.DespiteDown syndrome kids being chirpy and lovable.Those born unidentified face severe rejections by society.