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Down syndrome: Due to Excess Chromosome Conditions - More is not always better. More money, more friends, more laughs, usually good for everyone. More sugar, more salt, more problems, usually bad for most people. Similarly, when more chromosomes.

Have normal human body cells consisting of 46 chromosomes. When added to an extra chromosome 47, then the result instead of making you to be superhuman, but it will make you have a condition called Down Syndrome (Down Syndrome).

Down syndrome is not a disease, but a genetic condition resulting in some degree of learning disability and a number of physical traits typical. Syndrome or group of symptoms is named after John Langdon Down, the British doctor first described in the 19th century. Down syndrome was once known as "mongolism" and disabling called "mongoloid", referring to the Mongol tribe which has a composition similar to face people with Down syndrome. However, due to ethical reasons the term is no longer used.

Down syndrome is a chromosomal abnormality in the cell number of the most common. Approximately 1 out of every 1,000 babies are born with Down syndrome. Each year, an estimated more than 200,000 children around the world born with this condition. Exact numbers are not available, because there is no systematic data collection.

Down syndrome can be identified from a number of the following signs:

1. Mental retardation

Down syndrome causes mental retardation is the most common. Children with Down syndrome are often difficult to learn to speak, partly because they have bad hearing. Their language is sometimes difficult to understand. In many cases, they need more time to understand the situation and new things. As babies, they delayed motor development. They learn to crawl or walk at an older age.

They are usually limited intellectual power, most have intelligence below average and very small portion developmentally disabled. Down syndrome child's intellectual development is not only dependent on genetic inheritance, but also on how much power they are intellectually stimulated and developed.

2. Physical appearance

People with Down syndrome can usually be recognized by their distinctive appearance:

    #Short head (brachycephaly) with a flat head, short neck, round and flat face
    #Slanted eyes with delicate folds of skin at the inner corner of the eye (epicanthus) and protruding eyeballs
    #Bright white spots on the iris at the time of the baby (Brushfield spots), which disappeared after adult
    #Root of the nose is flat and wide
    #Mouth is always open and excess saliva
    #Grooved tongue are often too large and protruding from the mouth (macroglossia)
    #Palate narrow and high arched
    #Wide distance between the thumb and the other toes (sandal gap)
    #Wide palms with short fingers
    #Ears small and round
    #Simian crease (transverse grooves on the sole, starting below the index finger and pinkie extended below)
    #Stunted growth. Persons with Down syndrome are generally sized body below the average (dwarfism). Many less developed muscles (hypotonia), and delayed reflexes.

Not all people with Down syndrome exhibit all of the characteristics above. Every person is different and also has some physical features of their family. The most accurate way to find out is with a Down syndrome chromosome examination.
3. Health effects

Extra chromosome in Down syndrome causes malformations of organs and tissues. How big is the impact on health varies from person to person. Health effects associated with Down syndrome, including:

    Congenital heart defects, especially septal defect between the atria and ventricles that causes shortness of breath, impaired growth, and recurrent pneumonia.
    Abnormalities of the gastrointestinal tract, such as abnormalities of the small bowel or rectal malformation.
    Hearing loss
    Susceptibility to infections (especially respiratory), because the immune system is less developed.
    Acute leukemia, the risk increased by about 20-fold in people with Down Syndrome
    Other health problems such as blurred vision, deformities of the hip (hip dysplasia), thyroid disorders, ADHD, autism and infertility.

Causes

The human body consists of cells. Each cell is like a factory that has everything needed for the growth and maintenance of the body. Each cell contains the nucleus where genes are stored. Genes clustered in the thread-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes. Each of 23 inherited from the mother and 23 from the father, bringing the total to 46 chromosomes.

In people with Down syndrome, all or a portion of the cells in their body contains 47 chromosomes, because there is an extra copy of chromosome number 21. Therefore, doctors usually refer to as trisomy 21 Down syndrome ("tri" means three, "Somi" means the chromosome). Additional material that causes a variety of physical and developmental characteristics associated with Down syndrome.

Down syndrome is usually the cause of an error in the production of egg cells in the ovaries, which is more common in older women. There are three types of genetic abnormalities that cause Down's syndrome:

    Trisomy 21 Free: in which all the cells in the body have an extra chromosome 21 material. Approximately 94% of people with Down syndrome have this type.
    Translocation trisomy: where an extra chromosome 21 attached to another chromosome (for example to 13, 14 or 15). About 4% of people with Down syndrome have this type.
    Mosaic trisomy: where only some of the cells have an extra chromosome 21. This type is usually less show signs of Down syndrome, depending on how many cells possessed trisomy. About 2% of people with Down syndrome have this type.

Risk factors

In principle, every pregnancy is risky to produce a child who has Down syndrome or other genetic disorders. However, with increasing maternal age, the risk increases. In the 20-year-old mother, the risk of having a child with Down syndrome is 1 per 1450. At age 30, the risk increases to 1 per 940, and at the age of 40 to 1 per 85.

The scientists suspect that older women are more susceptible to interference, making it easier to avoid mistakes in chromosome division process. Other factors may also contribute to a father's age, harmful radiation, alcohol abuse, excessive smoking, use of oral contraceptives or viral infection at the time of conception. However, how important these factors are still debated among scientists.