What do you notice most about this baby?

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What do you notice most about this baby?
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Human Genetic Chromosomal Mutations
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Mutations

• are changes in the genetic material
• can be good or bad
• can be on a single gene or the whole chromosome

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Intro to a Human Karyotype
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What is a karyotype?

• Picture of your chromosomes
• Arranged from largest to smallest
• quickly identify chromosomal changes

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Normal Male and Female Karyotypes
In a human karyotype, the first 22 pairs of
chromosomes are the autosomes. The 23rd pair of
chromosomes are the sex chromosomes
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4 Types of Genetic Disorders

• Single gene
• Change in the DNA sequence
• More than 6000 known disorders
• Autosomal or sex linked
• 1 in 200 births
• cystic fibrosis, sickle cell anemia, Marfan
  syndrome, Huntingtons disease

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Types of Genetic Disorders

• Multifactoral
• combination of environmental factors and
  mutations in multiple genes
• more complicated
• heart disease, high blood pressure, Alzheimers
  disease, arthritis, diabetes, cancer, and obesity
  

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Types of Genetic Disorders

• Chromosomal
• abnormalities in chromosome structure as missing
  or extra copies or gross breaks and rejoining
  (i.e.deletions, duplications, inversions,
  translocation)
• Down Syndrome

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Types of Genetic Disorders

• Mitochondrial
• rare type of genetic disorder
• caused by mutations in the non-chromosomal DNA of
  mitochondria
• Current Event

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Think-Pair-Share

• Do you know anyone with a genetic disorder?
• If yes, What do they have?
• Is the person male or female?

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Turners Syndrome
1 in 5,000 births 45 chromosomes X only 23
MonosomyNondisjunction
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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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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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Aniridia-Wilms Tumor Syndrome
1 in 50,000,000 births 46 chromosomesXY 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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Thirteen Q Deletion Syndrome
1 in 500,000 births 46 chromosomesXY 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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Prader-Willi Syndrome
1 in 5,000,000 births46 chromosomes XY97
XX3 15 Deletion of lower arm
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Prader-Willi Syndrome
Small bird-like head Mentally retarded Respiratory
problems Obesity Short lifespan
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Eighteen Q Deletion Syndrome
1 in 10,000,000 births 46 chromosomesXY 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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Cat-Eye Syndrome
1 in 1,000,000 births 46 chromosomesXY 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 chromosomesXY or
XX 4 Inversion
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Four-Ring Syndrome
Cleft palate Club feet Testes dont descend Short
lifespan.
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Down Syndrome
Down Syndrome Trisomy
1 in 31,000 births46 chromosomes XY97
XX3 14/21 Translocation
1 in 1,250 births 47 chromosomesXY or XX 21
Trisomy Nondisjunction
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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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Pataus Trisomy Syndrome
1 in 14,000 births 47 chromosomesXY or XX 13
Trisomy Nondisjunction
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Pataus 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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Edwards Trisomy Syndrome
1 in 4,400 births47 chromosomes XX80
XY20 18 Trisomy Nondisjunction
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Edwards Trisomy Syndrome
Small head Mentally retarded Internal organ
abnormalities 90 die before 5 months of age
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Jacobs Syndrome
1 in 1,800 births 47 chromosomesXYY only 23
Trisomy Nondisjunction
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Jacobs Syndrome
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Normal physicallyNormal mentally Increase in
testosterone More aggressive Normal lifespan
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Klinefelter Syndrome
1 in 1,100 births 47 chromosomesXXY 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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Triple X Syndrome
1 in 2,500 births 47 chromosomesXXX only 23
TrisomyNondisjunction
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Triple X Syndrome
Normally physically Fertile Mentally behavioral
and emotional difficulties are
possible