Grade 8
Genetic disorders
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA.
Abnormalities can be as small as in just one gene, or they can involve the addition or subtraction of
entire chromosomes.
Chromosomal Abnormalities - In these disorders, entire chromosomes, or large segments of them,
are missing, duplicated, or otherwise altered.
Down Syndrome
What is Down syndrome?
Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is
why the disorder is also called "trisomy 21"). Having an extra copy of this chromosome means that
individuals have three copies of each of its genes instead of two, making it difficult for cells to
properly control how much protein is made. Producing too much or too little protein can have
serious consequences.
How do people get Down syndrome?
Down syndrome is typically caused by what is called nondisjunction. Nondisjunction happens when
a pair of chromosomes fails to separate during egg (or sperm) formation. When that egg unites
with a normal sperm to form an embryo, the embryo ends up with three copies of chromosome 21
instead of the normal two. The extra chromosome is then copied in every cell as the baby
develops.
Interestingly, nondisjunction events seem to occur more frequently in older women. This may
explain why the risk of having a baby with Down syndrome is greater among mothers age 35 and
older.
Symptoms of Down syndrome
People with Down syndrome have distinct facial features: a flat face, a small broad nose,
abnormally shaped ears, a large tongue, and upward-slanting eyes with small folds of skin in the
corners.
People with Down syndrome have an increased risk of developing a number of medically
significant problems, including respiratory infections, gastrointestinal tract obstruction (blocked
digestive tract), leukemia, heart defects, hearing loss, hypothyroidism, and eye abnormalities. They
also have moderate to severe intellectual disability; children with Down syndrome usually develop
more slowly than their peers and have trouble learning to walk, talk, and take care of themselves.
Because of these medical problems, most people with Down syndrome have a decreased life
expectancy. About half live to be 50 years of age.
Interesting facts about Down syndrome
Down syndrome is really the only trisomy compatible with life. Only two other trisomies have been
observed in babies born alive (trisomies 13 and 18), but babies born with these trisomies have
only a 5% chance of surviving longer than one year.
In 90% of Trisomy 21 cases, the additional chromosome comes from the mother's egg rather than
the father's sperm.
Down syndrome is the most common genetic disorder caused by a chromosomal abnormality. It
affects 1 out of every 800 to 1,000 babies.
Down syndrome was originally described in 1866 by John Langdon Down. It wasn't until 1959 that
French doctor Jerome Lejeune discovered it was caused by the inheritance of an extra
chromosome 21.
Klinefelter syndrome
What is 47, XXY (Klinefelter syndrome)?
47, XXY (or XXY) is a genetic condition caused when someone has two X chromosomes and one Y
chromosome. Males normally have an X chromosome and a Y chromosome (46, XY), and females
normally have two X chromosomes (46, XX).
Because people with an XXY chromosome arrangement have a Y chromosome, they are considered
genetic males. Most XXY individuals develop as males, often not knowing they have an extra
chromosome. Some will develop the varied and often subtle characteristics associated with
Klinefelter syndrome. And a small proportion will develop as intersex (between male and female)
or female. Physical characteristics may appear around the time of puberty, when gender identity
and sexual characteristics begin to take shape.
How do people get 47, XXY (Klinefelter syndrome)?
XXY is usually caused by what is called nondisjunction. Nondisjunction happens when a pair of sex
chromosomes fails to separate during egg (or sperm) formation. When an egg (or sperm) with an
extra X chromosomes joins with a normal sperm (or egg), the resulting embryo will end up with
three sex chromosomes (XXY) instead of the normal two (XX or XY). As the baby develops, the
extra chromosome is then copied in every cell.
Nondisjunction leading to XXY is equally likely to happen in the mother's egg and the father's
sperm.
Symptoms of 47, XXY (Klinefelter syndrome)
The XXY chromosome arrangement affects primarily sexual development. Typically, testes don't
fully develop, and the levels of the hormone testosterone (important for male sexual
development) are lower than average. As adults, nearly all XXY males are unable to make sperm
and so cannot have biological children. Many men discover their condition only after they seek
medical help for infertility.
The symptoms of XXY (Klinefelter syndrome) can be very subtle and are highly varied. Children and
adults may be taller than average, with proportionally longer arms and legs, and they may have
less-muscular bodies, more belly fat, wider hips, narrower shoulders, or minor to moderate
learning disabilities. Changes that appear at puberty can include low growth of facial and body
hair, development of breast tissue, and small testes.
XXY individuals are also more likely to develop certain medical conditions, including osteoporosis
(weak bones), varicose veins, type 2 diabetes, and heart valve defects. As adults, they are just as
likely as XX females to develop breast cancer and certain autoimmune disorders.
Interesting facts about 47, XXY (Klinefelter syndrome)
XXY is one of the most common genetic conditions, affecting about 1 in 660 genetic males.
Klinefelter syndrome is named for Dr. Harry Klinefelter, who first reported its symptoms in 1942.
Turner syndrome
What is Turner syndrome?
Turner syndrome is caused by a missing or incomplete X chromosome. People who have Turner
syndrome develop as females. Some of the genes on the X chromosome are involved in growth
and sexual development, which is why girls with the disorder are shorter than normal and have
incompletely developed sexual characteristics.
How do people get Turner syndrome?
Normally, a girl inherits one X chromosome from her mother and one X chromosome from her
father. But girls who have Turner syndrome are missing one of their X chromosomes.
Turner syndrome is typically caused by what is called nondisjunction. Nondisjunction happens
when a pair of sex chromosomes fails to separate during the formation of a sperm (or egg). When
sperm with no X chromosome unites with a normal egg to form an embryo, that embryo will have
just one X chromosome (X rather than XX). As the embryo grows and the cells divide, the X
chromosome will be missing from every cell of the baby's body.
The abnormality is not inherited from an affected parent (not passed down from parent to child),
because women with Turner syndrome are usually sterile and cannot have children.
Nondisjunction happens when chromosomes are distributed incorrectly during egg and sperm
formation. The gametes above either are missing or have an extra X chromosome.
Symptoms of Turner syndrome
Turner syndrome affects growth and sexual development. Girls with this disorder are shorter than
normal and may not start puberty when they should. This is because the ovaries (which produce
eggs, as well as the sex hormones estrogen and progesterone) don't develop properly.
Turner syndrome usually does not affect intelligence. Common physical symptoms of Turner
Syndrome include a stocky build, arms that turn out slightly at the elbow, a receding lower jaw, a
short webbed neck, and a low hairline at the back of the neck.
Medical symptoms can include lymphedema (swelling of hands and feet), heart and/or kidney
defects, high blood pressure, and infertility (inability to have children).
Interesting facts about Turner syndrome
This disorder is seen in 1 of every 2000 to 2500 baby girls, with about 800 new cases diagnosed
each year.
In 75-80% of cases, the single X chromosome comes from the mother's egg; the father's sperm
that fertilizes the egg is missing its sex chromosome.
Turner syndrome is named for Dr. Henry Turner, who in 1938 published a report describing the
disorder.
The average height of a woman with Turner syndrome is 4 feet 8 inches.
A female fetus (normally XX) that is missing one of its X chromosomes can survive, but a male fetus
(normally XY) cannot. The X chromosome is a long DNA molecule with many genes that are needed
for cells to function; it is essential for life. In contrast, the Y chromosome carries few genes and is
not essential for life.
Autism
What Is Autism?
Autism spectrum disorder (ASD) is the name for a group of developmental disorders. ASD includes
a wide range, “a spectrum,” of symptoms, skills, and levels of disability.
Autism is a complex neurobehavioral condition that includes impairments in social interaction and
developmental language and communication skills combined with rigid, repetitive behaviors.
Because of the range of symptoms, this condition is now called autism spectrum disorder (ASD). It
covers a large spectrum of symptoms, skills, and levels of impairment. ASD ranges in severity from
a handicap that somewhat limits an otherwise normal life to a devastating disability that may
require institutional care.
Some people are mildly impaired by their symptoms, while others are severely disabled.
Treatments and services can improve a person’s symptoms and ability to function.
Children with autism have trouble communicating. They have trouble understanding what other
people think and feel. This makes it very hard for them to express themselves either with words or
through gestures, facial expressions, and touch.
A child with ASD who is very sensitive may be greatly troubled -- sometimes even pained -- by
sounds, touches, smells, or sights that seem normal to others.
Children who are autistic may have repetitive, stereotyped body movements such as rocking,
pacing, or hand flapping. They may have unusual responses to people, attachments to objects,
resistance to change in their routines, or aggressive or self-injurious behavior. At times they may
seem not to notice people, objects, or activities in their surroundings. Some children with autism
may also develop seizures.
What Causes Autism?
Because autism runs in families, most researchers think that certain combinations of genes may
predispose a child to autism. But there are risk factors that increase the chance of having a child
with autism.
Advanced age of the mother or the father increases the chance of an autistic child.
When a pregnant woman is exposed to certain drugs or chemicals, her child is more likely to be
autistic. These risk factors include the use of alcohol, maternal metabolic conditions such as
diabetes and obesity, and the use of antiseizure drugs during pregnancy. In some cases, autism has
been linked to untreated phenylketonuria (called PKU, an inborn metabolic disorder caused by the
absence of an enzyme) and rubella (German measles).
Although sometimes cited as a cause of autism, there is no evidence that vaccinations cause
autism.
Exactly why autism happens isn't clear. Research suggests that it may arise from abnormalities in
parts of the brain that interpret sensory input and process language.
Researchers have no evidence that a child's psychological environment -- such as how caregivers
treat the child -- causes autism.
