Pedigrees and

Karyotyping
Analyzing Inheritance Patterns
and Chromosomes
Pedigree Karyotype
 Engage
Sex-Linked Recessive – Hemophilia
“The Royal Disease”
Read the short story Alexis: The Prince Who Had Hemophilia –
by:-Kelley, Laureen A.
Set in the early 1900s, this is the story of the youngest child of Tsar
Nicholas II of Russia, last Tsar of Russia. The story includes how
Alexis's hemophilia influenced the course of events in Russia that led
to the Russian Revolution
 Some History

 Hemophilia has played an

important role in Europe's
history
 The disease began to crop up
in Great Britain's Queen
Victoria’s children
 It became known as the
"Royal disease" because it
spread to the royal families of
Europe through Victoria's
descendants
 How it Spread
 it spread through the
Royal Houses of Europe
as monarchs arranged
marriages to consolidate
political alliances.
 We can trace the
appearance of
hemophilia as it popped
up in Spain, Russia, and
Prussia by looking at the
family tree.
The Royal Family Tree
Queen Victoria's son Leopold's
Family
 His daughter, Alice of
Athlone, had one
hemophilic son (Rupert)
and two other children --
a boy and a girl -- whose
status is unknown.
 What is the chance that
her other son was
hemophilic?
 What is the probability
that her daughter was a
carrier? hemophiliac?
 The Spanish Connection
 Now for the Spanish connection:
Victoria's youngest child, Beatrice,
gave birth to one daughter, one
normal son, and two hemophilic
sons.
 Looking at the pedigree of the
royal family, identify which of
Beatrice's children received the
hemophilic gene; why can you
make this conclusion? Notice that
Beatrice's daughter, Eugenie,
married King Alfonso XIII of
Spain and had six children, one of
whom was the father of Juan
Carlos, the current King of Spain.
 Would you predict that Juan
Carlos was normal, a carrier, or a
hemophilic?
German and Russian Influences
Pedigree Analysis
 Why do Pedigrees?
 Punnett squares and chi-square tests work well
for organisms that have large numbers of
offspring and controlled matings, but humans
are quite different:
1. small families. Even large human families
have 20 or fewer children.
2. Uncontrolled matings, often with
heterozygotes.
3. Failure to truthfully identify parentage.
 Goals of Pedigree Analysis
 1. Determine the mode of inheritance:
dominant, recessive, partial
dominance, sex-linked, autosomal,
mitochondrial, maternal effect.
 2. Determine the probability of an
affected offspring for a given cross.
Basic Symbols
More Symbols
Karyotyping

 Analyzing Chromosomes
Engage
Genetic Disorders
 Patau Syndrome
 Edward Syndrome
 Klinfelter’s Syndrome
 Turner Syndrome
 Super Male Syndrome
 Super Female Syndrome
 47, XX or XY, +13
 serious eye, brain,
circulatory defects as
well as cleft palate.
1:5000 live births.
Children rarely live
more than a few
months.
 Patau Syndrome
Cleft Palate
Edward Syndrome
 almost every organ system affected 1:10,000 live
births. Children with full Trisomy 18 generally do
not live more than a few months.
Klinefelter’s Syndrome
 Male sex organs; unusually small testes, sterile.
Breast enlargement and other feminine body
characteristics. Normal intelligence.
Klinefelter
Syndrome
 Breast development
 Small testes
 Sterile
 Low intelligence
– Not retarded
Turner Syndrome
 the ONLY viable monosomy
Turner
Syndrome
 Short
 Not go through
pruberty
 Produce little
estrogen
 Sterile
 Extra skin on neck
 Super Male and
Super Female
 - Has an XXX
- Fertile
females with
normal
intelligence

Has an XYY
- Tall male with heavy acne
- Some tendency to mental
retardation
Aggressive tendency
Trisomy 21
Down Syndrome
Down
Syndrome
 Large tongue
 Flat face
 Single crease across
palm
 Slanted eyes
 Mental retardation
– Some are not
Maternal Age & Down
Syndrome
Explore 2

 Analyzing chromosomes of a normal

male or female
Normal Female
Normal Male
Explain
Questions

 How many chromosomes come from

your Father?
 How many chromosomes come from
your Mother?
 What are chromosome pairs 1-22
called?
 What is chromosome pair 23 called?
Parts of a chromosome

 All human chromosomes have two arms

– the short arm is referred to as the ____
P

arm (petite)
– the long arm as the ___
Q arm
Disorders

 Name 3-4 diseases caused by a

chromosomal abnormality.
 What most often causes this abnormal
number of chromosomes?
Nondisjunction
Terms to Know
 If either of these gametes unites with another
during fertilization, the result is
________________
Aneuploidy (any abnormal
chromosome number)
 A _____________cell
Trisomy has one extra
chromosome (2n +1).
Monosomy
 A ___________ cell has one missing
chromosome (2n - 1)
 Elaborate
 Draw pedigrees from the given problems.
The Royal Family Tree
Elaborate 2

 Clues From the Karyotype

– You will become a geneticists by
identifying, organizing and studying
human chromosomes to determine if any
chromosomal disorder is present in your
patient.
Evaluate

 Without any assistance, identify 4 of

the 6 karyotypes with the correct
disorder, male or female, and normal
or abnormal.