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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??