ID:
F121
Down syndrome - Trisomy 21
Method:
FISH
(Fluorescence In Sıtu Hybrıdızatıon)
Full name:
Down syndrome - Trisomy 21 (blood)
Sample Type:
Sample quantity:
Sample container:
Blood
5 ml
A tube with a purple cap
There are three main types of Down syndrome:
Trisomy 21 - the presence of the 21st chromosome in all cells of the body, not two, but three
Translocation Down syndrome - the reason is the combination of the 21st chromosome with another chromosome, i.e. translocation. If either mother or father is a carrier of a balanced translocation on chromosome 21, it can be passed on to their children, even if they themselves are asymptomatic.
Mosaic - Down's syndrome - the presence of the 21st chromosome in some, not all cells of the body, instead of two.
The probability of giving birth to a child with Down syndrome increases as women age. These children look like each other, their stereotypes are the same. In other words, they are short, mentally retarded, their skulls are small and rounded, and flattened in the face area. The eyes are elongated and small, the slits are narrow, the skin is folded in the corners of the eyes, the mouth is half open, the tongue is large, the teeth are sparse, the muscles and joints are poorly developed. The immune system becomes weak, and the risk of catching diseases, especially malignant tumors, is very high. General underdevelopment of the brain and underdevelopment of the cerebellum lead to mental retardation, as well as disruption of normal movement coordination. Treatment is symptomatic. The goal of symptomatic treatment is to improve living conditions. There is no complete recovery. In addition to symptomatic treatments, speech therapy and psychotherapeutic work should be carried out.
Down syndrome is caused by having three copies of chromosome 21 (trisomy).
Symptoms:
Facial features: Flat face, flat nose bridge, almond shaped eyes, small ears.
Mental retardation: Mild to moderate mental retardation.
Muscle tone: Hypotonia (decreased muscle tone).
Growth: Short stature and stunted growth.
Heart problems: Congenital heart defects (40-60% of cases).
Health problems: Vision and hearing problems, thyroid problems, immune system weakness.
Chronic diseases: High risk of Alzheimer's disease as you age.