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Chapter 11.3 Pg. 311
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Pairs of homologous chromosomes are arranged in decreasing size to produce a micrograph called a karyotype Scientists have found that chromosomes end in protective caps called telomeres Telomere caps consist of DNA associated with proteins
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Telomeres also might be involved in both aging and cancer
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Cell division during which sister chromatids fail to separate properly, which does happen occasionally, is called nondisjunction Nondisjunction can result in extra copies of a certain chromosome or only one copy of a particular chromosome Set of 3 chromosomes of one kind is called Trisomy
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Only one of a particular type of chromosome is called monosomy Alterations of chromosome number are associated with serious human disorders, which are often fatal
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one of the earliest known human chromosomal disorders Result of an extra chromosome 21(trisomy 21) Distinctive facial features, short stature, heart defects, and mental disabilities
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Frequency in the US: 1/800 children are born with Down Syndrome Frequency also increases with increasing age of mother ◦ 6% increase in chance with mothers who are 45+ www.downsyndrome.com
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Couples who suspect they might be carriers for certain genetic disorders might want to have a fetal test performed Test can only be performed if both mother and unborn child are in good health
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TESTBenefitRisk Amniocentesis-Diagnosis of chromosomal abnormalities -Diagnosis of other defects -Discomfort for mother -Slight risk of infection -Risk of miscarriage Chorionic villus sampling (placental sample) -Diagnosis of chromosomal -Diagnosis of certain genetic defects -Risk of miscarriage -Risk of infection -Risk of newborn limb defects Fetal blood sampling-Diagnosis of genetic or chromosome abnormalities -Checks for fetal blood problems and O 2 levels -Medications can be given to the fetus before birth -Risk of bleeding from sample site -Risk of infection -Amniotic fluid might leak -Risk of fetal death
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