Each cell in the human body contains 23 pairs of chromosomes. You inherit one set of the pair from your father and one set from your mother. Each chromosome is made up of many genes, about 2,000 in each chromosome, for a total of 50,000 genes in each cell. These genes make all the proteins in the body, which promote development and growth, and carry out all body functions.
When one or more of these genes or chromosomes are missing or mutated..... Read More... |
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| Down Syndrome |
Down syndrome
is set of mental and physical symptoms that
result from having an extra copy of Chromosome
21. Normally, a fertilized egg has 23
pairs of .... Read More.. |
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| Fragile
X Syndrome |
Fragile
X syndrome, also known as the Martin-Bell syndrome,
is a syndrome of X-linked mental retardation. Boys
with the syndrome may have large testes (macroorchidism)... Read More... |
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| Spina
Bifida |
Spina
bifida is a neural tube defect that arises
during pregnancy. Early in pregnancy, the neural
tube develops along the back of the embryo
and later becomes the.... Read More... |
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| Angelman Syndrome |
Angelman syndrome (AS) is a neurological disorder first described in 1965 by an English physician named Dr. Harry Angelman. Symptoms are usually evident after... Read More... |
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| Klinefelter Syndrome |
Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having... Read More... |
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| Turner Syndrome |
Turner syndrome is a genetic disorder in girls caused by a missing or defective X (female) chromosome. It occurs in 1 of 2,000-2,500 live female births... Read More... |
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