gene/chromosome maps formation of sperm & egg
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GENETIC DISORDERS
Three Types Single gene
Cystic fibrosis PKU
Chromosomal Down Syndrome
Mult-factors Alzheimers Disease
Down SyndromeTrisomy 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 chatCharacteristics• 1 in 20k – 50k• Intellectual disability• High-pitched cry• Microcephaly• Low birth weight• Hypotonia• Wide set eyes & small jaw
Cri du chat
Williams SyndromeCause: Deletion of 26 genes on CH 7
Incidence: 1 in 10,000
Williams Syndrome1. Cheerful demeanor
2. ID3. Heart defects4. Small upturned nose5. Wide mouth & full
lips6. Small chin7. Feeding problems
Williams Syndrome
Klinefelter SyndromeCause: XXY
Incidence: 1 in 500-1k newborn males
Klinefelter Syndrome
Klinefelter Syndrome
Klinefelter Syndrome
1. Sparse body hair2. Enlarged breasts3. Wide hips4. Small genitalia5. Language and learning
issues