Transcript Chromosomal Disorders

Chromosomal Disorders
For Human Karyotype Lab
Down Syndrome
Down Syndrome
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.
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 toilettrained. However, they generally start learning
these things later than unaffected children.
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.
Klinefelter Syndrome
Klinefelter Syndrome
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.
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.
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.
Turner Syndrome
Turner Syndrome
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.
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.
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 finefinger movements.