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Genetics & Related
Disorders
Terms and Symptoms
2 Terms You Must Know…
Diploid – number of
chromosomes in most body cells.
Humans have 46.
Haploid – having ½ the number of
chromosomes. Sperm & egg
cells.
So now answer this…
Which statement describes the beginning
and end products of meiosis?
– A. One diploid cell becomes two haploid cells.
– B. One haploid cell becomes two diploid cells.
– C. One diploid cell becomes four haploid
cells.
– D. One haploid cell becomes four diploid
cells.
The Answer Is…
Genetic Disorders
Abnormal condition that a person inherits
through genes or chromosomes.
– Causes include:
1. Mutation (change) in DNA
2. Changes in structure of chromosomes
3. Changes in number of chromosomes
Down Syndrome
Extra copy of
chromosome 21
Chromosomes fail to
separate during
meiosis
Older mothers (40+)
Intellectual disability,
heart defects, eye
problems, poor
muscle tone
55 years average life
Sickle Cell Disease
Clogs blood vessels
& cannot carry as
much oxygen
AA = normal
Aa = produce
normal/abnormal
blood cells
aa = sickle cell
disease
Sickle Cell Statistics
Occurs in 1 out of every 500 African
American births
More common in regions where malaria is
found – sickle cells protect against the
disease
Antibiotics, transfusions, bone marrow
transplant = treatments
Can live well into middle age or beyond
Klinefelter’s Syndrome
XXY – affects only
males
Chromosomes fail
to separate in
meiosis
Little to no
body/facial hair;
sterile; learning
disabilities;
overweight
Turner Syndrome
X – females missing
the 2nd X
chromosome
Chromosomes fail to
separate in meiosis
Short, stocky, swollen
hands/feet, short
neck, sterile
Example of Meiosis resulting in
Turner’s syndrome
Hemophilia
The blood clots slowly
or not at all
Recessive allele on X
chromosome
Most common in
males because males
have only one X
chromosome
Hemophilia genetically linked
Queen Victoria’s Hemophilic
Family
Trisomy 18
•Clenched fists
•Mental delay
•Small head/jaw
•Low set ears
•½ die before age1; others may live
to teen years
Genetic disorders don’t define who you are.
Would you know there was ever a problem?
Hemophilia
Epilepsy
Down Syndrome
Turner’s Syndrome
Klinefelter’s Syndrome
Tay-sachs