Lab: Karyotypes

Name - Cecilia Reyes A01194468

Introduction:
We all know that all children inherit physical characteristics from their parents. For this
reason they have similar hair and eye color, height and other characteristics that are
transmitted by the genes, molecules that determine theses characteristics. Genes form part of
the chromosomes that are composed of DNA. All individuals of the same species have the
same number of chromosomes. In humans, the total number of chromosomes is 46. A
karyotype is a visual display of the chromosomes, arranged by size, shape and banding
patterns. In a karyotype, the first 22 pairs are ordered according to size from largest to
smallest and are called autosomes. The last pair of chromosomes, the sex chromosomes
determines the gender of the individual, where XX results in a female and XY results in a male.
However, during meiosis, mistakes can occur that result in cells with abnormal numbers of
chromosomes. Various human disorders result from abnormal chromosome number or
structure. Such disorders often result in a syndrome, which is a group of symptoms that
always occur together. In this activity, you will learn how to diagnose chromosomal
abnormalities using a karyotype.
Materials:
1. A copy of the activity
2. Karyotypes
3. Access to internet

Instructions:

1. Using the karyotype that you are given, answer the following analysis questions:
a) How many autosomes are present in this karyotype?
- There are 22 autosomes present.
b) Is this person male or female? How do you know?
- It is female because the sex chromosome is XX.

c) Is this person normal or does he or she present a chromosomal disorder.

Explain your answer.
- Yes, this person has a disease because it has an extra chromosome.

d) If this person has a chromosomal disorder, in which chromosome pair is it

found?
- It is found in chromosome 21.
e) If this is the case, identify which chromosomal disorder is present.
- This person has Down syndrome because of the extra chromosome 21.
f) Define the following terms: Deletion and non-disjunction.
Deletion - the loss or absence of a section from a nucleic acid molecule or
chromosome
Non disjunction - the failure of one or more pairs of homologous chromosomes
or sister chromatids to separate normally during nuclear division

Evaluation:
Criteria

Analysis questions

Student answered
all 6 questions
correctly

Student answered
4-5 questions
correctly

Student answered
2- 3 questions
correctly

Team work

Students brought
materials

Students did not

bring materials

Task completion

Student finished the

activity on time

Student did not

finish the activity
on time