Post on 01-Jan-2016
The packaging for our genesGenes are the instructions used to make functional productsProteins are the basic component of all living cells
CHROMOSOMESCHROMOSOMES
What are they?
Can see chromosomes under microscope during cell division
CHROMOSOMESCHROMOSOMES
What do they look like?
CHROMOSOMESCHROMOSOMES
What do they look like?
p arm“petit”
q arm
centromere
telomere
telomere
654321
chromosome region“3p21”
2
1
1
2
Fruit Fly 8
Peas 14
Goldfish 94
Dogs 78
Humans 46
CHROMOSOMESCHROMOSOMES
How many chromosomes do other organisms have?
• Down syndrome• Cri du Chat syndrome• Williams syndrome
CHROMOSOMESCHROMOSOMES
What are some disorders that are caused by chromosomal imbalances?
Common Physical FeaturesDecreased muscle tone at birthSimian creaseUpward slanting eyesHeart defectsShorter height
DevelopmentModerate to severe mental retardationDelay in language, cognitive, motor
Treatment
Life Expectancy50% live longer than 50 years.
Impact of this condition on the affected person and their family
DOWN SYNDROMEDOWN SYNDROME
• Microdeletion of chromosome 7q11
• “cocktail party” personality
• Moderate to severe learning problems
WILLIAMS SYNDROMEWILLIAMS SYNDROME