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Chromosomes
HumanNormal & Otherwise
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How a Karyotype is made
Cells must first be grown in culture, then stimulated to divide.
As the cells enter metaphase, a chemical agent that produces a
banding pattern is applied, and then a picture is taken of
the chromosomes.
A technician then arranges the chromosomes in groups as
shown on the next slide.
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How a Karyotype is made
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Human Female Karyotypewith chromosomes paired
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Human Male Karyotype
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Human Male Karyotypewith chromosomes paired
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Words to Know
Monosomy – only 1 copy of a chromosome
Trisomy – 3 copies of a chromosome
Nondisjunction – failure of paired chromosomes to separate
during meiosis (gamete formation)
Nondisjunction video
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Baby #1
Turners Syndrome
1 in 5,000 births
45 chromosomes
X only
#23 Monosomy
Nondisjunction
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Turners Syndrome
96-98% do not survive to birth
No menstruation
No breast development
No hips
Broad shoulders and neck
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Baby #2
Prader-Willi Syndrome
1 in 5,000,000 births
46 chromosomes
XY=97%
XX=3%
#15 Deletion of lower arm
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Prader-Willi Syndrome
Small bird-like head
Mentally retarded
Respiratory problems
Obesity-Continuously eat…. Never feel full
Short lifespan
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Baby # 3
Down Syndrome1 in 31,000 births
46 chromosomes
XY=97%
XX=3%
#14/21 Translocation
1 in 1,250
births
47
chromosomes
XY or XX
#21 Trisomy
Nondisjunction
Down Syndrome
Trisomy
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Down Syndrome
Short, broad hands
Stubby fingers
Rough skin
Impotency in males
Mentally retarded
Small round face
Protruding tongue
Short lifespan
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Baby #4
Eighteen Q Deletion
Syndrome
1 in 10,000,000 births
46 chromosomes
XY or XX
#18 Deletion of lower arm
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Eighteen Q Deletion Syndrome
Mentally retarded
Heart disease
Abnormal hands and feet
Large eyes
Large ears
Normal lifespan
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Baby #5
Edward’s Trisomy Syndrome
1 in 4,400 births
47 chromosomes
XX=80%
XY=20%
#18 Trisomy
Nondisjunction
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Edward’s Trisomy Syndrome
Small head
Mentally retarded
Internal organ abnormalities
90% die before 5 months of age
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Baby #6
Cri-Du-Chat Syndrome
1 in 216,000 births
46 chromosomes
XY or XX
#5 Deletion of lower
arm
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Cri-Du-Chat Syndrome
Moon-shaped face
Heart disease
Mentally retarded
Malformed larynx
Normal lifespan
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Baby #7
Klinefelter Syndrome
1 in 1,100 births
47 chromosomes
XXY only
#23 Trisomy
Nondisjunction
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Klinefelter Syndrome
Scarce beard
Longer fingers and arms
Sterile
Delicate skin
Low mental ability
Normal lifespan
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Baby #8
Aniridia-Wilms Tumor
Syndrome
1 in 50,000,000 births
46 chromosomes
XY or XX
#11 Deletion of upper arm
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Aniridia-Wilms Tumor Syndrome
Mentally retarded
Growth retarded
Blindness
Tumors on kidneys
Short lifespan
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Baby #9
Patau’s Trisomy Syndrome
1 in 14,000 births
47 chromosomes
XY or XX
#13 Trisomy
Nondisjunction
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Patau’s Trisomy Syndrome
Small head
Small or missing eyes
Heart defects
Extra fingers
Abnormal genitalia
Mentally retarded
Cleft palate
Most die a few weeks after birth
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Baby #10
Jacob’s Syndrome
1 in 1,800 births
47 chromosomes
XYY only
#23 Trisomy
Nondisjunction
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Jacob’s Syndrome
Normal physically
Normal mentally
Increase in testosterone
More aggressive
Normal lifespan
?
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Baby #11
Thirteen Q Deletion
Syndrome1 in 500,000 births
46 chromosomes
XY or XX
#13 Deletion of lower arm
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Thirteen Q Deletion Syndrome
Mentally retarded
Deformed face
No thumbs
Heart disease
Short lifespan
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Baby #12
Triple X Syndrome
1 in 2,500 births
47 chromosomes
XXX only
#23 Trisomy
Nondisjunction
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Triple X Syndrome
Normally physically
Normal mentally
Fertile
Short lifespan
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Cat-Eye Syndrome
1 in 1,000,000 births
46 chromosomes
XY or XX
#22 Deletion of bottom
arm
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Cat-Eye Syndrome
Fused fingers and toes
Mentally retarded
Small jaw
Heart problems
Normal lifespan
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Four-Ring Syndrome
1 in 10,000,000 births
46 chromosomes
XY or XX
#4 Inversion
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Four-Ring Syndrome
Cleft palate
Club feet
Testes don’t descend
Short lifespan
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Baby #9
Patau’s Trisomy Syndrome
1 in 14,000 births
47 chromosomes
XY or XX
#13 Trisomy
Nondisjunction
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Patau’s Trisomy Syndrome
Small head
Small or missing eyes
Heart defects
Extra fingers
Abnormal genitalia
Mentally retarded
Cleft palate
Most die a few weeks after birth
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Baby #10
Jacob’s Syndrome
1 in 1,800 births
47 chromosomes
XYY only
#23 Trisomy
Nondisjunction
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Jacob’s Syndrome
Normal physically
Normal mentally
Increase in testosterone
More aggressive
Normal lifespan
?
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Baby #12
Triple X Syndrome
1 in 2,500 births
47 chromosomes
XXX only
#23 Trisomy
Nondisjunction
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Triple X Syndrome
Normally physically
Normal mentally
Fertile
Short lifespan