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Firstly, What Down Syndrome is..

Down syndrome, also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. Down syndrome is the most common chromosome abnormality in humans. The physical features and medical problems associated with Down syndrome can vary widely from child to child. It is typically associated with physical growth delays, a particular set of facial characteristics and a severe degree of intellectual disability.

The most common features associated with Down syndrome include: Low muscle tone (babies appear "floppy") Flat facial features, with a small nose Upward slant to the eyes Small skin folds on the inner corner of the eyes Small, abnormally shaped ears Single deep crease across the center of the palm Hyperflexibility (excessive ability to extend joints) Fifth finger has only one flexion furrow instead of two Extra space between the big toe and the second toe Enlarged tongue that tends to stick out

In humans, if an ovum with two copies of chromosome 21 is fertilised by a normal sperm cell then the individual formed has three copies of chromosome 21 in their cells. Such individuals show Down's syndrome.

A karyotype shows the full set of chromosomes of an individual arranged in sequence. Here the karyotype shown is from the cell of a male with Down's syndrome. Chromosomes one to 20 and 22 are shown to be present as homologous pairs. There are three copies of chromosome 21 and such individuals develop to show Down's syndrome. The sex chromosomes are shown as X and Y and such individuals develop as male.

How all of the features above affects kids Low muscle tone is also characteristic of children with DS, and babies in particular may seem especially "floppy." Though this can and often does improve over time, most children with DS typically reach developmental milestones, like sitting up, crawling, and walking, later than other kids. At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet teaching. Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with DS can and do learn, and are capable of developing skills throughout their lives.

(Basically) What happens is.. At the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical features and developmental delays associated with DS.

A drawing of the facial features of Down syndrome

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