Down Syndrome - Karyotype

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Down Syndrome: Karyotype
Karyotype of a person with Down syndrome
The Chromosomal Basis of Down Syndrome
To understand why Down syndrome occurs, the structure and function of the human chromosome must be understood. The human body is made of cells; all cells contain chromosomes, structures that transmit genetic information. Most cells of the human body contain 23 pairs of chromosomes, half of which are inherited from each parent. Only the human reproductive cells, the sperm cells in males and the ovum in females, have 23 individual chromosomes, not pairs. Scientists identify these chromosome pairs as the XX pair, present in females, and the XY pair, present in males, and number them 1 through 22.
When the reproductive cells, the sperm and ovum, combine at fertilization, the fertilized egg that results contains 23 chromosome pairs. A fertilized egg that will develop into a female contains chromosome pairs 1 through 22, and the XX pair. A fertilized egg that will develop into a male contains chromosome pairs 1 through 22, and the XY pair. When the fertilized egg contains extra material from chromosome number 21, this results in Down syndrome.
Source: National Institute of Child Health and Human Development, National Institutes of Health. www.
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