GENETIC DISORDERS

Gene/Chromosome Maps

Formation of sperm & egg

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 chatCause: 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