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CHROMOSOMES
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• The packaging for our genes• Genes are the
instructions used to make functional products• Proteins are the
basic component of all living cells
CHROMOSOMES
What are they?
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• In every cell of our body, except for red blood cells
CHROMOSOMES
Where are they?
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• Can see chromosomes under microscope during cell division
CHROMOSOMES
What do they look like?
CHROMOSOMES
What do they look like?
p arm“petit”
q arm
centromere
telomere
telomere
654321
chromosome region“3p21”
2
1
1
2
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• 46 chromosomes• 22 pairs of autosomes• 1 pair sex
chromosomes
HUMAN KARYOTYPE
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Which one is the Y?
SEX CHROMOSOMES
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Fruit Fly 8
Peas 14
Goldfish 94
Dogs 78
Humans 46
CHROMOSOMES
How many chromosomes do other organisms have?
MITOSIS
MEIOSIS
CHROMOSOME DIFFERENCES
Down syndrome Cri du Chat syndrome Williams syndrome
CHROMOSOMES
What are some disorders that are caused by chromosomal imbalances?
DOWN SYNDROME
Photo provided by CDSS
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Common Physical FeaturesDecreased muscle tone at birth
Simian crease
Upward slanting eyes
Heart defects
Shorter height
DevelopmentModerate to severe mental retardation
Delay in language, cognitive, motor
Treatment
Life Expectancy50% live longer than 50 years.
Impact of this condition on the affected person and their family
DOWN SYNDROME
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MEIOSIS AGAIN...
trisomy
Normal Meiosis Abnormal Meiosis: Non-disjunction
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CRI-DU-CHAT SYNDROME
Photos provided by www.criduchat.asn.au
DELETION
TRANSLOCATION
Reciprocal
46,XX,t(2;17)(q21.3;q25.2)
TRANSLOCATION
Reciprocal
45,XX,der(13q;14q)
**
TRANSLOCATION
Robertsonian
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Microdeletion of chromosome 7q11
“cocktail party” personality
Moderate to severe learning problems
WILLIAMS SYNDROME
A man carries a 21q21q Robertsonian translocation. What is the chance that he will have a baby without a chromosome problem?
QUESTION??