Chromosomal Abnormalities Jasmin Cook

DownSyndrome- What is Down syndrome? Down syndrome is caused by a genetic disorder that happens before birth. Down Syndrome is a life- long condition.


Who? Most people have 46 chromosomes but down syndrome people have 47. Things that also may cause down syndrome would be genetics, For example, If you have a brother or sister with Down syndrome- it is most likely to occur to kids you were to have in the future.

what are the symptoms? Distinctive facial features, such as a flat face, small ears, saluting eyes, and a small face. A short neck and short arms and legs. Down syndrome people also have low muscle tone and loose joints, which improves while they become older. They may also have below level intelligence.

Klinefelter syndrome-Klinefelter syndrome is a group of chromosomal disorders in males in which one or more extra X chromosomes are put together.KS

XXY male

XX male

XXYY male

XXXY male

XXXXY male

The extra X and/or Y chromosome can affect physical, developmental, behavioral, and cognitive functioning.

Turner Syndrome- Turner syndrome results from a missing or incomplete sex chromosome.

Symptoms include short stature, delayed puberty, infertility, heart defects, and certain learning disabilities.

Treatment involves hormone therapy. Fertility treatment may be necessary for women who want to become pregnant.

Turner syndrome is a chromosomal condition related to the X chromosome that alters development in females, though it is not usually inherited in families.

How do you get Turner Syndrome- Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.

Color Blidness-Most of us share a common color vision sensory experience. Some people, however, have a color vision deficiency, which means their perception of colors is different from what most of us see. The most severe forms of these deficiencies are referred to as color blindness. People with color blindness aren’t aware of differences among colors that are obvious to the rest of us. People who don’t have the more severe types of color blindness may not even be aware of their condition unless they’re tested in a clinic or laboratory.

Inherited color blindness is caused by abnormal photopigments. These color-detecting molecules are located in cone-shaped cells within the retina, called cone cells. In humans, several genes are needed for the body to make photopigments, and defects in these genes can lead to color blindness.

There are three main kinds of color blindness, based on photopigment defects in the three different kinds of cones that respond to blue, green, and red light. Red-green color blindness is the most common, followed by blue-yellow color blindness. A complete absence of color vision —total color blindness – is rare.

Sometimes color blindness can be caused by physical or chemical damage to the eye, the optic nerve, or parts of the brain that process color information. Color vision can also decline with age, most often because of cataract - a clouding and yellowing of the eye’s lens.

As many as 8 percent of men and 0.5 percent of women with Northern European ancestry have the common form of red-green color blindness.

Men are much more likely to be colorblind than women because the genes responsible for the most common, inherited color blindness are on the X chromosome. Males only have one X chromosome, while females have two X chromosomes. In females, a functional gene on only one of the X chromosomes is enough to compensate for the loss on the other. This kind of inheritance pattern is called X-linked, and primarily affects males. Inherited color blindness can be present at birth, begin in childhood, or not appear until the adult years.

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jasmin cook

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