DOWN SYNDROME

Down Syndrome

Down Syndrome

Disorder Inheritance

Down's syndrome - a genetic disease characterized by abnormality of 21 pairs of chromosomes, and dementia characteristic external features (slanting eyes, flat face, a transverse crease on the palm of your hand, the relatively low growth, a large tongue, etc.). The cause of Down's syndrome is a trebling of 21 chromosomes. The risk of having children with Down syndrome increases considerably in the case of maternal age over 35 years of age or father over 45 years. For the first time Down syndrome was described in 1866 by English physician John Langdon Down, as mental retardation, combined with the characteristic external features, and in 1959, Jerome Lejeune scholar defined its genetic nature (Borsel, 2004). Treatment for Down syndrome includes neuropsychological rehabilitation and social adaptation of children, as well as treatment of opportunistic diseases and malformations.

Causes of Down Syndrome

The body's cells healthy person contain 46 chromosomes (23 pairs), each of which carries a certain part of the genetic information and the impact on the development of certain characteristics of an organism. In medicine, all the pairs of chromosomes are numbered from 1 to 23.

The cause of Down's syndrome is a trebling of 21 chromosomes. This means that in the cells of the patient has Down's syndrome is not 2 out of 21 pairs of chromosomes, but three(Pensler, 2005).

Forms of Down Syndrome

The most common form of Down syndrome - trisomy of the standard (full triplication of chromosome 21 in all cells of the body).The share of this form accounting for 94% of all cases of the disease.

Less commonly (approximately 4% of cases) occurs translocation (offset) 21 pairs of chromosomes in the other chromosome.

Mosaic form (about 2% of cases) - is the most common form of Down syndrome, in which three times the 21 chromosome contains only a few cells of the patient, and patients themselves have a normal appearance and intelligence, but at great risk having a child with Down syndrome .

The most common causes of chromosome 21 and the tripling of Down's syndrome are:

elderly age of parents: a mother older than 35 years, my father over 45 years

too young maternal age (18 years)

closely related marriages

The risk of having a baby with Down syndrome increases with age parents to developmental disorders of female reproductive cells, as well as (approximately 25% of cases) because of the disruption of education of male germ cells (Pilcher, 2002). It is shown that with age and maturation process of dividing ...