GENETICS 133 Case Adventures in Karyotyping my version-2 (Doherty Family) new update University of Wisconsin, Madison

GENETICS 133 Case Adventures in Karyotyping n7 n7 n7 n7 n7




my version-2 (Doherty Family) new update
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University of Wisconsin, Madison
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Case Review Preparation Worksheet n7 n7 n7 Case Name: n7 Doherty Family n7




• thereason for referral (why chromosome analysis was requested on your patient)
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Mrs. Doherty is slightly older than the ideal age to have children, which can lead to birth abnormalities in
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some cases.
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• on what tissue the test was performed (i.e.: amniotic fluid, chorionic villi, blood)
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n7 Amniotic Fluid n7




• the presence/absence of a chromosome abnormality and specific chromosomes involved (if
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n7 present)
Not present n7




• if present, how the chromosome abnormality occurred (what caused it?) N/A
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• a brief explanation as to why a chromosome abnormality is not present (what occurred
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properly?)
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There are 46 properly paired chromosomes, with a matched xx pair to denote a female child. This
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occurred due to the correct process of meiosis after fertilization.
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• the phenotype as it relates to genotype of the patient (is your patient’s phenotype normal or
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abnormal?)
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Thephenotype of the fetus shows no abnormalities, which matches the genotype.
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Case Review Preparation Worksheet n7 n7 n7 Case Name : n7 n7 n 7 n 7 Jackson Family n7




• thereason for referral (why chromosome analysis was requested on your patient)
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Thecouple has had problems with previous pregnancies. In addition that that history, both Mrs. And
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Mr. Jackson have asthma, which could possibly be inherited.
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• on what tissue the test was performed (i.e.: amniotic fluid, chorionic villi, blood)
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n7 Chorionic Villi n7




• the presence/absence of a chromosome abnormality and specific chromosomes involved (if
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n7 present)
Abnormality not present n7 n7




• if present, how the chromosome abnormality occurred (what caused it?) N/A
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• a brief explanation as to why a chromosome abnormality is not present (what occurred
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properly?)
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