Bell Ringer
• Answer the following:
• What is the diagram
called?
• What process leads to
abnormal chromosome
numbers in cells?
• Male or Female?
• Sex Chromosome or
Autosomal Chromosome?
• What condition would
they have?
Down Syndrome (Trisomy 21)
• Down syndrome is a genetic condition where a
person is born with an extra copy of chromosome 21.
This means that they have a total of 47 chromosomes
instead of 46. This can affect how their brain and
body develop. People diagnosed with Down syndrome
have happy and healthy lives with supportive care.
Fragile X Syndrome
Fragile X syndrome is the leading
cause of inherited intellectual
disabilities like autism. There are
behavioral, physical, intellectual and
mental health symptoms. Females
have milder symptoms than males.
FXS is not life-threatening and
although there is no cure,
medication and therapy can help
manage the symptoms.
Klinefelter Syndrome
• Klinefelter syndrome is a common genetic condition
where a male is born with an extra X chromosome.
Typically, a male has one X and one Y chromosome.
People with Klinefelter syndrome can experience
breast growth, breast cancer, osteoporosis,
infertility and learning difficulties. Treatment
typically involves physical and emotional therapy, as
well as hormone replacement.
Jacob’s Syndrome (Antisocial Male) (XYY)
Affected individuals are usually very
tall. Many experience severe acne
during adolescence. Additional
symptoms may include learning
disabilities and behavioral problems
such as impulsivity. Intelligence is
usually in the normal range,
although IQ is on average 10-15
points lower than siblings.
Triple X Syndrome
• Triple X syndrome is a genetic condition where a
female is born with an extra X chromosome. This
condition only happens in females. It can be
passed down from a parent or happen
spontaneously. Females with triple X syndrome
may have no symptoms and not know they have
the condition, or their symptoms could include
being usually tall and fertility issues. There’s no
cure for triple X syndrome.
Turner Syndrome
• Turner syndrome is a genetic disorder
affecting girls and women. The cause of
Turner syndrome is a completely or
partially missing X chromosome. Turner
syndrome symptoms include short
stature and lack of breast development
and periods. Treatment for Turner
syndrome may include hormone therapy.
Patau Syndrome (Trisomy 13)
• This severely disrupts normal
development and, in many cases,
results in miscarriage, stillbirth or
the baby dying shortly after birth.
• Babies with Patau's syndrome
grow slowly in the womb and have
a low birthweight, along with a
number of other serious medical
problems.
• Patau's syndrome affects about 1
in every 5,000 births. The risk of
having a baby with the syndrome
increases with the mother's age.
Edward’s Syndrome (Trisomy 18)
• Edwards syndrome (trisomy 18) is a
genetic condition that causes physical
growth delays during fetal development.
Life expectancy for children diagnosed
with Edwards syndrome is short due to
several life-threatening complications of
the condition. Children who survive past
their first year may face severe
intellectual challenges.
Cri-du-Chat Syndrome (Deletion, Chromosome 5)
• Cri du chat syndrome is a rare genetic
disorder in which a variable portion of the
short arm of chromosome 5 is missing or
deleted. Symptoms vary greatly from case to
case depending upon the exact size and
location of the deleted genetic material.
Common symptoms include a distinctive cry
that resembles the mewing of a cat,
characteristic facial features, slow growth,
and microcephaly, a condition that indicates
that head circumference is smaller than
would be expected for an infant’s age and
sex.