Chapter 11.

Chromosomes and Human

Heredity
Karyotype Studies
• A Karyotype is an array of
chromosomes created by
photographing the
metaphase chromosomes
from one cell, cutting out
the individual
chromosomes from the
photograph and lining
them up in order from
largest to smallest,
pairing the appropriate
homologous
chromosomes. ...
Karyotype Studies
• Notice on this
Karyotype there are 3
copies of the 21st set
of chromosomes
• This results in downs’
syndrome (trisomy
21)
 Nondisjunction at M1
Nondisjunction at M2
• Non-disjunction occurs when chromosomes in
the developing gamete (sex cell) fail to separate
during one of the divisions of meiosis. The result
is a sperm or egg cell with either an additional
chromosome, or one that lacks one
chromosome. When this sex cell combines with
one from the opposite sex, the resulting fetus will
have cells with an extra, or one chromosome
that is lacking. Generally, such fetus' will not
develop properly and we would say that the
resulting baby would have a birth defect.
Animation of Non-Disjunction
Changes in Numbers of Sex
Chromosomes
Turners Syndrome (0X)
• Turner syndrome is a
genetic disorder that
affects a girl's
development. The
cause is a missing or
incomplete X
chromosome. Girls
who have it are short,
and their ovaries don't
work properly. Most
are infertile.
XXX female
• Triple X syndrome is a
form of chromosomal
variation characterized by
the presence of an extra
X chromosome in each
cell of a human female.
• Usually these woman are
undiagnosed and function
normally
XXY male – Klinefelter’s Syndrome
• Chromosomal defect
in males in which
there is an extra X
chromosome;
manifestations may
include
underdeveloped
testes, physical
feminization, sterility,
and mental
retardation.
 XYY Male
• Most often, this chromosomal change causes no
unusual physical features or medical problems.
• XYY boys and men are usually taller than
average and several centimeters taller than their
parents and siblings
• XYY males have normal sexual development
and usually have normal fertility. Since XYY is
not characterized by distinct physical features,
the condition is usually detected only during
genetic analysis for another reason.
 OY Chromosome
• A person with only one Y chromosome
(45,Y) could not survive or be born alive.
The X chromosome has important genes
on it that would be completely missing in
such a person.
Fetal Testing - amniocentesis
• A sample of amniotic
fluid can be withdrawn
and analyzed (fluid
contains fetal cells). It
is useful for
• Diagnosing sex linked
disorders
• Chromosomal defects
• Sex can also be
determined
Fetal Testing – Chorionic villus
sampling
• Tissue is taken from
membrane surrounding
the fetus. Can test for:
• (1) Chromosomal
abnormalities.
• (2) Some inherited
disorders. Dominant,
Recessive and X-linked
patterns of inheritance.
Fetal Testing – Fetal Blood
sampling
• A fetal blood sample may be
taken to:
• diagnose genetic or
chromosome abnormalities.

• check for and treat severe fetal

anemia or other blood problems
such as Rh disease.

• check for fetal oxygen levels.

• check for fetal infection.

• give certain medications to the

fetus.
 Extra Review

• REVIEW: Nondisjunction can be caused by

_____ .
• Answer: Failure of the chromosomes to
separate during meiosis
• REVIEW: A gamete affected by
nondisjunction would have _____ .
a. a change from the normal chromosome
number
b. one extra or one missing chromosome
c. the potential for a genetic disorder
d. all of the above
 More questions
• Amniocentesis involves sampling
• Fetal cells in amniotic fluid
• The condition occurring when an organism
has a 2n + 1 chromosome composition is
known as
• Trisomy
• The sex chromosome composition of a
person with Turner syndrome is
• XO
 Assessment
• 1. Sex of individual and whether the
proper number of chromosomes are there
• 2. In homologous pairs from largest to
smallest.
3.
 4.
• Males only receive on X and one Y so
missing sections could contain vital genes
. With females having 2 XX deletion in one
X could be made up for by the other
 Further study
• Really interesting information on human
genetics