chromosomes. the packaging for our genes genes are the instructions used to make functional products...
TRANSCRIPT
CHROMOSOMESCHROMOSOMES
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?
In every cell of our body, except for red blood cells
CHROMOSOMESCHROMOSOMES
Where 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
46 chromosomes22 pairs of autosomes1 pair sex chromosomes
HUMAN KARYOTYPEHUMAN KARYOTYPE
Which one is the Y?
SEX CHROMOSOMESSEX CHROMOSOMES
Fruit Fly 8
Peas 14
Goldfish 94
Dogs 78
Humans 46
CHROMOSOMESCHROMOSOMES
How many chromosomes do other organisms have?
MITOSISMITOSIS
MEIOSISMEIOSIS
CHROMOSOME DIFFERENCESCHROMOSOME DIFFERENCES
• Down syndrome• Cri du Chat syndrome• Williams syndrome
CHROMOSOMESCHROMOSOMES
What are some disorders that are caused by chromosomal imbalances?
DOWN SYNDROMEDOWN SYNDROME
Photo provided by CDSS
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
MEIOSIS AGAIN...MEIOSIS AGAIN...
trisomy
Normal Meiosis Abnormal Meiosis: Non-disjunction
CRI-DU-CHAT SYNDROMECRI-DU-CHAT SYNDROME
Photos provided by www.criduchat.asn.au
DELETIONDELETION
TRANSLOCATIONTRANSLOCATION
Reciprocal
46,XX,t(2;17)(q21.3;q25.2)
TRANSLOCATIONTRANSLOCATION
Reciprocal
45,XX,der(13q;14q)
**
TRANSLOCATIONTRANSLOCATION
Robertsonian
• Microdeletion of chromosome 7q11
• “cocktail party” personality
• Moderate to severe learning problems
WILLIAMS SYNDROMEWILLIAMS SYNDROME
A man carries a 21q21q Robertsonian translocation. What is the chance that he will have a baby without a chromosome problem?
QUESTION??QUESTION??