KLINEFELTER’S DISEASE

WHAT IT IS:
Individuals that have XXY sex
chromosomes.
WHAT IT LOOKS LIKE:
The condition exists in roughly 1 out of every
1000 males, but many of these people may not
show symptoms. Individual appears male, but
has smaller testes, are infertile, and may have
some female sex characteristics. The more
severe end of the spectrum of symptom
expression is also associated with an increased
risk of germ cell tumors, male breast cancer, or
osteoporosis.
Turner’s syndrome
WHAT IT IS:
These girls are often described as “XO” instead of
“XX” because they are missing the 2nd X
chromosome.
WHAT IT LOOKS LIKE:
Occurring in 1 in 2000 the syndrome manifests
itself in a number of ways. There are
characteristic physical abnormalities, such as
short stature, swelling, broad chest, low
hairline, low-set ears, and webbed necks. Girls
with Turner syndrome typically experience
X Y non-working ovaries, which results in absence
of menstrual cycle and sterility.
Hermaphrodite
WHAT IT IS:
A true hermaphrodite has XXXY chromosomes-
two from the mother, two from the father.
WHAT IT LOOKS LIKE:
In biology, a hermaphrodite is an organism that
has reproductive organs normally associated with
both male and female sexes. What does this mean in
humans? It means an organism has both male and
female genitals. In nature, many organisms like
slugs, have both male and female reproductive
parts.
 DOWN SYNDROME
WHAT IT IS:
It is a chromosomal condition caused by the
presence of all or part of an extra 21st chromosome.
This is also called Trisomy 21 (tri for three
chromosomes on the 21st chromosome).
WHAT IT LOOKS LIKE:
Individuals with Down syndrome may have some or
all of the following physical characteristics: an
abnormally small chin, an unusually round face,
protruding or oversized tongue, an almond shape to
the eyes, and shorter limbs. Health concerns for
individuals with Down syndrome include a higher
risk for heart defects, recurrent ear infections that
may lead to hearing loss, thyroid dysfunctions, and
obesity.
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 Karyotype analysis Name_________________
Station 1 Station 2

Disorder name________________________ Disorder name________________________

or _Normal?__ or _Normal?__
How do you know? How do you know?
# of Chromosomes____________ # of Chromosomes____________
Irregular chromosome pair?_____________ Irregular chromosome pair?_____________

Sex_______________ Because it has the sex Sex_______________ Because it has the sex
chromosomes:________________ chromosomes:________________

Station 3 Station 4

Disorder name________________________ Disorder name________________________

or _Normal?__ or _Normal?__
How do you know? How do you know?
# of Chromosomes____________ # of Chromosomes____________
Irregular chromosome pair?_____________ Irregular chromosome pair?_____________

Sex_______________ Because it has the sex Sex_______________ Because it has the sex
chromosomes:________________ chromosomes:________________

Station 5 Station 6

Disorder name________________________ Disorder name________________________

or _Normal?__ or _Normal?__
How do you know? How do you know?
# of Chromosomes____________ # of Chromosomes____________
Irregular chromosome pair?_____________ Irregular chromosome pair?_____________

Sex_______________ Because it has the sex Sex_______________ Because it has the sex
chromosomes:________________ chromosomes:________________