Human Genetic Disorders

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Human GeneticDisorders

• Their symptoms

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Crouzon Syndromegenetic disorder, skull bones
fuse, 1-25,000 are affected

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Meet Kenadie!

                                                                

• Kenadie 3yrs.old
• Tyran 18mths.

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Primodial Dwarfism
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Children with Downs syndromeTrisomy 21

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Downs SyndromeNondisjunction

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Patau Syndrome ? extra chr. 13

• Severe abnormal brain function
• Facial malformations
• Usually die in early infancy

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Edward Syndrome ? extra chr. 18

• Severe mental retardation
• Characteristic malformations of skull, pelvis and
  feet
• Die in early infancy

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Klinefelters Syndrome XXYNondisjunction

• Tallness with extra long arms and legs
• Abnormal body proportions (long legs, short
  trunk)
• Lack of facial and body hair
• Sterile
• Learning disabilities
• Personality impairment

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Turners syndrome XNondisjunction

• MONOSOMY 45 chromosomes (missing X chromosome
• FEMALE usually infertile
• MOSAIC ? mutation occurs in SOME of their cells
  (not all cells)
• 1 in 2,500 females born with Turners

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Symptoms of Turner Syndrome

• short stature
• webbed skin of the neck
• drooping eyelids
• absent secondary sex characteristics
• infertility

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Webbed Neck
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Mom and her daughter with Turners Syndrome

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XYY Syndrome

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XXX Syndrome

• 47 Chr.
• Sometimes sterile
• Normal mental ability
• Sometimes taller