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Published byBeatrice Harris Modified over 9 years ago
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Autosome - any chromosome other than the X & Y Sex chromosomes – 23rd pair of determine sex in organism
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A picture of chromosomes arranged based on size and shape.
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Karyotypes can identify abnormal number of chromosomes due to mistakes during meiosis. Nondisjunction: the failure of chromosomes to separate properly during Anaphase I or II. Anaphase 1 Anaphase 2
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Can lead to a number of disorders in the baby. Trisomy (extra chromosome) or Monosomy (one less chromosome). Down’s syndrome Klinefelter’s syndrome Turner’s syndrome Edward’s syndrome
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Sex: Female # of chromosomes =46 Diagnosis: healthy
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46 Male Healthy
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Male 47 Klinefelters
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Female 45 Turners
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Female 47 Downs Syndrome
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Male 47 Edward’s syndrome
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A chart that shows the relationships within a family that can be used to trace inheritance.
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A circle represents a female.A circle represents a female. A circle represents a female A square represents a male A horizontal line connecting a male and female represents a marriage A vertical line and a bracket connect the parents to their children. A shaded circle or square indicates that a person expresses the trait. A circle or square that is not shaded indicates that a person does not express the trait.
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LauraTomArleneTomJoannChuck DianeJack TammyNicoleTomJeffMattJessJodieMs. PittMonicaCandiceKayla MaeTom
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In female cells, one X chromosome is randomly switched off. The turned off X chromosome forms a dense region in the nucleus called a Barr body.
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An ongoing effort to analyze the human DNA sequence.
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Slide 23-38 I will do when I return.
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Tay - Sachs Disease More common among Jewish populations Young children begin showing signs of slowed development Severe impairment and death Build up of lipids in the body – lysosomes do not function properly
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Cystic Fibrosis More common in Caucasians Mucus in respiratory tract, difficulty breathing Extreme salty sweat Mucus may cause secondary infections
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Phenylketonuria (PKU) Lack enzyme for normal metabolism Phenylalanine builds up and causes brain damage Newborns are routinely tested Changes in diet lead to normal life
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Sickle Cell Disease More common in Africans (African-Americans) Causes blood to be sickle shaped Affects oxygen flow to organs, causing weakness, pain, anemia, etc Heterozygotes are resistant to malaria
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Affected children usually have an affected parent Heterozygotes are effected Two heterozygotes (Hh x Hh) can produce a normal (hh) child
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Huntington Disease Neurological disorder, progressive degeneration of the brain Symptoms appear later in life (40s, 50s)
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Achondroplasia Common form of Dwarfism Short arms and legs, normal torso Homozygotes (AA) do not survive
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Achondroplasia
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Hypercholesterolemia Incomplete dominance Caused by a recessive allele, however in the heterozygous form (Hh), individuals have 2x the normal blood cholesterol levels
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