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Chromosomes from Patient 1 are obtained from the nearly-full-term fetus of a forty year old female. Chromosomes were obtained from fetal epithelial cells acquired through amniocentesis. 2, 5, 12 and 16 do not have a homologous pair.
Place the chromosomes in the partially completed karyotype below by matching it to its homologous chromosome: explain why the chromosome you chose is unknown`s pair.
20 + 5 marks
2.Write down the correct karyotype
Describe and evaluate the phenotype, molecular aetiology, clinical picture, clinical outcome and prognosis.
Chromosomes were obtained from nucleated white blood cells. Patient 2 is a 28 year old male who is seeking to identify a cause for his infertility. 3, 10, 11, 14, 20 and 21are unpaired. Hint: Infertility is usually caused by a problem with sex chromosomes.
Place the chromosomes in the partially completed karyotype below by matching it to its homologous chromosome : explain why the chromosome you choose is unknown’s pair
35 + 5 marks
Chromosomes were obtained from a tissue sample of a neonate who died shortly after birth, with a multitude of anomalies, including polydactyly and a cleft lip.
40 + 5 marks