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


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

  • Intellectual disability

  • Low muscle tone

  • Heart defects


Normal Fertilization


Trisomy 21


Trisomy 21 - Mosaic


Trisomy 21


Trisomy 21


Cri du chat

Cause: Dislocation of CH 5 or missing part


Cri du chat


Cri du chat

  • Characteristics

  • 1 in 20k – 50k

  • Intellectual disability

  • High-pitched cry

  • Microcephaly

  • Low birth weight

  • Hypotonia

  • Wide set eyes & small jaw


Cri du chat


Williams Syndrome

Cause: Deletion of 26 genes on CH 7

Incidence: 1 in 10,000


Williams Syndrome

Cheerful demeanor

ID

Heart defects

Small upturned nose

Wide mouth & full lips

Small chin

Feeding problems


Williams Syndrome


Klinefelter Syndrome

Cause: XXY

Incidence: 1 in 500-1k newborn males


Klinefelter Syndrome

Sparse body hair

Enlarged breasts

Wide hips

Small genitalia

Language and learning issues


Klinefelter Syndrome

Sparse body hair

Enlarged breasts

Wide hips

Small genitalia

Language and learning issues


Klinefelter Syndrome


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