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Chromosomal Disorders

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Presentation on theme: "Chromosomal Disorders"— Presentation transcript:

1 Chromosomal Disorders
For Human Karyotype Lab

2 Down Syndrome

3 Down Syndrome

4 Down Syndrome Affected individuals have some degree of intellectual disability, characteristic facial features and, often, heart defects and other health problems. The severity of these problems varies greatly among affected individuals.

5 Down Syndrome What can a child with Down syndrome do? Children with Down syndrome usually can do most things that any young child can do, such as walking, talking, dressing and being toilet-trained. However, they generally start learning these things later than unaffected children.

6 Down Syndrome Can Down syndrome be cured? There is no cure for Down syndrome. However, some studies suggest that women who have certain versions of some genes that affect how their bodies metabolize (process) the B vitamin folic acid may be at increased risk for having a baby with Down syndrome (5, 6). If confirmed, this finding may provide yet another reason why all women who might become pregnant should take a daily multivitamin containing 400 micrograms of folic acid. Taking folic acid can help reduce the risk of having a baby with certain birth defects of the brain and spinal cord.

7 Klinefelter Syndrome

8 Klinefelter Syndrome

9 Klinefelter Syndrome As babies, many XXY males have weak muscles and reduced strength. They may sit up, crawl, and walk later than other infants. After about age four, XXY males tend to be taller and may have less muscle control and coordination than other boys their age.

10 Klinefelter Syndrome As XXY males enter puberty, they often don't make as much testosterone as other boys. This can lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys.

11 Klinefelter Syndrome By adulthood, XXY males look similar to males without the condition, although they are often taller. They are also more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.

12 Turner Syndrome

13 Turner Syndrome

14 Turner Syndrome Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems.

15 Turner Syndrome Turner syndrome is a chromosomal condition related to the X chromosome. Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

16 Turner Syndrome Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements.

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