BGEN 3020 Lecture 10: Lecture 3-4
3 Oct 2018
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Table 2. 5 clinical consequences of numerical chromosome abnormalities. Polyploidy: triploidy, 69, xxx, or 69, xyy, 1-3% of all conceptions; almost never born live and do not survive long. Aneuploidy (sex chromosomes: additional sex chromosomes. Mixploidy: two or more genetically distinct lineages in one person: mosaicism: abnormalities arise in the same zygote, chimerism: aggregation of two zygotes (fraternal twins) In certain cell types or tissues (e. g. white blood cells: constitutional abnormality, present in all cells, very early event abnormal sperm, egg or fertilization. Paracentric inversion: inversion of dna within the p or q arm; does not involve the centromere. Pericentric inversion: inversion of a region of dna that includes the centromere. Philadelphia chromosome example: a chromosome with no centromeres (acentric) will be lost during meiosis or mitosis, a chromosome with 2 centromere (dicentric) will also be lost as proper sorting would be lost during metaphase.
