CMMB 413 Lecture Notes - Lecture 6: Robertsonian Translocation, Cytogenetics, Gamete

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The principles of clinical cytogenetics part 5. When translocated product undergoes meiosis, there is no cross over because not homologous chromosomes. Rather than having quadrivalent structure, they make a trivalent structure. Normal pair of chromosomes in one cell. Normal chromosome 14 and 21 segregate into one cell. Adjacent-1: have 2 copies of 14 and 1 copy of 21 (haploinsuffieiny issue, therefore, lethal). Or 2 copies of 14 and 3 copies of 21 viable because 21 encodes less genes than 14, so body can tolerate that. Rare because what we need is 2 breaking points for one chromosome and a 3rd breaking point on another chromosome to allow insertion to take place. This can produce offspring that might have duplications or deletions of the inserted fragments. Depending on which gamete is fertilized, the results of the offspring can have more or less copies of the fragment.

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