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Chapter 6.1
What is a Chromosome?

 Chromosome – a structure made of

DNA and associated proteins on
which genes are located.
 DNA and proteins are “coiled up” in
 Genes are segments of DNA that
code for proteins or RNA molecules.
 Play an important role in how a person’s
body develops and functions.
 Chromosomes are made of 2
 Two chromatids of a chromosome
are attached at a point called a
Why are Chromosomes split into
Chromatids during Cell Division?
 To ensure that each cell has the
same genetic information.
 How may chromosomes do humans
 23 pairs of chromosomes (46 total)
 One set from the mother and one set
from the father
 Cells with two sets of chromosomes
are called diploid. (Somatic Cells)
 Cells with one set of chromosomes
are called haploid. (Gametes – Sex
 During fertilization, two haploid cells
merge to form a diploid cell
 Our chromosomes are homologous
 (similar in size, shape, and genetic
 22 pairs of our chromosomes are
called Autosomes.
 The other pair are called the sex
 Males
 XY chromosomes
 Females
 XX chromosomes
** Sex is determined by the male,
since the male can donate both an X
and Y chromosome.
 Karyotypes are used to examine an
individual’s chromosomes.
 Abnormal numbers of chromosomes
can cause problems:
 Having too few chromosomes results
in death.
 Having too many can cause
 Ex. Down Syndrome
 Down Syndrome (Trisomy 21) is
caused by a diploid gamete fusing
with a haploid gamete during
 3 copies of chromosome 21.
 Deletion – piece of chromosome
breaks off completely
 Duplication – fragment attaches to
its homologous chromosome
 Inversion – fragment reattaches on
the opposite side.
 Translocation – fragment attaches
to a nonhomologous chromosome.