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Screenings, Karyotype and Pedigree
Genetic Screenings
1. Blood Tests
2. Amniocentesis – amniotic fluid surrounding baby (in pregnant
women) removed & analyzed in karyotype
3. Chorionic villi sampling – test tissue growing between uterus &
placenta (make karyotype)
Karyotype = picture of chr. in 1 cell, arranged in homologous pairs by
size & shape
• Detects mutations or missing/extra chr. for genetic disorders
Detecting Human Genetic Disorders
Pedigree = diagram showing how a trait is inherited over several
generations
Normal Male
Male w/ condition
Male CARRIER for condition
Normal Female
Female w/ condition
Female CARRIER for condition
½ colored in
Carrier = Person has 1 copy of a recessive allele
• usually HETEROZYGOUS
• don’t show/express trait but can pass it to offspring
• males can never be carriers for X-linked disorders
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