Genetic disorders
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Genetic disorders. Gene/Chromosome Maps. Formation of sperm & egg. Three Types Single gene Cystic fibrosis PKU Chromosomal Down Syndrome Mult -factors Alzheimers Disease. Down Syndrome Trisomy 21. Characteristics. Almond shaped eyes with upward slant Short stature

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Genetic disorders

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Genetic disorders

Genetic disorders


Genetic disorders 2171031

Gene/Chromosome Maps


Genetic disorders 2171031

Formation of sperm & egg


Genetic disorders 2171031

  • Three Types

  • Single gene

    • Cystic fibrosis

    • PKU

  • Chromosomal

    • Down Syndrome

  • Mult-factors

    • Alzheimers Disease


Genetic disorders 2171031

Down Syndrome

Trisomy 21


Genetic disorders 2171031

Characteristics

  • Almond shaped eyes with upward slant

  • Short stature

  • Intellectual disability

  • Low muscle tone

  • Heart defects


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Normal Fertilization


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Trisomy 21


Genetic disorders 2171031

Trisomy 21 - Mosaic


Genetic disorders 2171031

Trisomy 21


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Trisomy 21


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Cri du chat

Cause: Dislocation of CH 5 or missing part


Genetic disorders 2171031

Cri du chat


Genetic disorders 2171031

Cri du chat

  • Characteristics

  • 1 in 20k – 50k

  • Intellectual disability

  • High-pitched cry

  • Microcephaly

  • Low birth weight

  • Hypotonia

  • Wide set eyes & small jaw


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Cri du chat


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Williams Syndrome

Cause: Deletion of 26 genes on CH 7

Incidence: 1 in 10,000


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Williams Syndrome

Cheerful demeanor

ID

Heart defects

Small upturned nose

Wide mouth & full lips

Small chin

Feeding problems


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Williams Syndrome


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Klinefelter Syndrome

Cause: XXY

Incidence: 1 in 500-1k newborn males


Genetic disorders 2171031

Klinefelter Syndrome

Sparse body hair

Enlarged breasts

Wide hips

Small genitalia

Language and learning issues


Genetic disorders 2171031

Klinefelter Syndrome

Sparse body hair

Enlarged breasts

Wide hips

Small genitalia

Language and learning issues


Genetic disorders 2171031

Klinefelter Syndrome


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