KARYOTYPES Name(s): ___________________________________
Observe the karyotype below. Write 3-5 general observations that you notice.
OBSERVATIONS:
Now read the paragraph below to answer the questions on the right:
A karyotype is like a picture of all the chromosomes What is a karyotype?
in a person's cells. Chromosomes are structures
made up of DNA wrapped around proteins.
We get half of our chromosomes from each of our We get half our chromosomes from the
parents. We get 23 chromosomes from the egg and ____________ and the other half from the
23 matching chromosomes from the sperm. This
____________.
gives us a total of 46 chromosomes.
These matching pairs of chromosomes are called Matching pairs of chromosomes are called
homologous chromosome pairs. These
_______________________ pairs.
chromosomes have the same genes in the same
order, but there are small differences in the DNA
code of those genes. These pairs of chromosomes have the
same __ __ __ __ __ but may have slightly
You can think of homologous chromosomes like two
cookbooks with the same recipes, but each is made a different __ __ __ codes.
slightly different way: one has a different ingredient or
a different way of making the dish. This is like how Go circle any ONE pair of
your homologous chromosomes may both have an
homologous chromosomes in the
eye color gene, but one contains the code for blue
color and one contains the code for brown color. karyotype at the top of the page.
One thing that karyotypes show is the chromosomal
sex. People who receive 2 X chromosomes develop Biological females typically have __ __.
into biological females (XX). People who receive 1 Biological males typically have __ __.
X chromosome and 1 Y chromosome develop into
biological males (XY).
What is the main purpose of creating a
Scientists mainly use karyotypes to look for any
karyotype?
problems with our chromosomes. These problems
can occur when an egg or sperm receives either too A) To identify the specific genes on
many or too few chromosomes, resulting in an each chromosome.
embryo with an extra or missing chromosome. B) To study the different types of cells
in the body.
If a baby is born with unusual features or
developmental delays, a karyotype can help to C) To detect any abnormalities or
problems with chromosomes.
determine if there is a chromosomal problem.
Karyotypes can also be used to check for genetic D) To determine the exact order of DNA
disorders in a developing fetus. bases in a chromosome.
Now look at 4 different karyotypes. For each one, CIRCLE the abnormal chromosomes and
IDENTIFY the disorder using the hand out.
X Y
#1: SYNDROME: ________________________ #2: SYNDROME: ________________________
#3: SYNDROME: ________________________ #4: SYNDROME: ________________________
Chromosomal Disorders
*Class Set – Please do not write on*
Below are brief descriptions of chromosomal genetic disorders. These are disorders
that result from changes in the quantity of many genes based on the addition or loss
of entire chromosomes or chromosome segments. Because of the changes in large
amounts of genes, these disorders usually exhibit a wide range of symptoms.
AUTOSOMAL CHROMOSOME Syndromes – these result from
changes in autosomes (#1-22… NOT the X & Y sex chromosomes)
Patau Syndrome: Patau syndrome is caused by an extra
chromosome # 13 (trisomy 13). Children with Patau rarely survive
because of severe neurological and heart defects. Symptoms
include intellectual disabilities, polydactylism, and heart/kidney
defects
Down Syndrome: Down syndrome is caused by an extra
chromosome # 21 (trisomy 21). It affects approximately 1 in 800
births. Symptoms include mild intellectual disabilities, short
stature, weak muscles, short limbs, thick tongue, flat nasal bridge
SEX CHROMOSOME Syndromes – these result from changes in sex chromosomes.
Females typically have XX and males typically have XY.
Jacob’s Syndrome: Jacob’s syndrome is caused by an extra Y
chromosome (XYY). This disorder occurs in approximately 1 in 850 males.
Usually, a male does not know that he has this condition unless a
genetic test has been done for another reason. Symptoms may include tall
stature, severe acne, large hands and feet, and increased testosterone.
Klinefelter Syndrome: Klinefelter syndrome occurs in males and is
caused by an extra X chromosome (XXY). The incidence is about 1 in
1,000 males. Symptoms may include breast development, sterility,
sparse facial and body hair, and rounded body type.
Trisomy X: Trisomy X occurs in females with an extra X
chromosome (XXX). It is often not diagnosed until later in life, as
the symptoms are mild. Trisomy X occurs in about 1 in 1,000 female
births. Symptoms may include tall stature, learning disabilities,
speech and language delays, and delayed motor skills.
Turner Syndrome: Turner syndrome occurs in females who have
only one X chromosome (X_). Most girls with this syndrome have
normal intelligence, with an occurrence in about 1 in 2,500 girls.
Symptoms include short stature, sterility, webbing of the neck, skeletal
abnormalities, kidney problems, and heart defects.