Human Genetics Lecture 06: Variation in Chromosome Structure

Duplications, Deletions, Inversions, Translocations

Deletions/Deficiencies and Duplications

A mutation where part of the chromosome is doubled with extra genetic material; caused by abnormalities in crossing over during meiosis.

<p>Tandem (adjacent) and Displaced (some distance from the original segment), in the same or inverted orientation.</p> Signup and view all the answers

<p>A small duplication on the short arm of chromosome 17</p> Signup and view all the answers

<p>Nonreciprocal translocations involve one-way movement of genetic material between chromosomes, while reciprocal translocations involve a two-way exchange.</p> Signup and view all the answers

<p>Chronic myeloid leukemia is associated with the Philadelphia chromosome, resulting from a reciprocal translocation between chromosomes 9 and 22.</p> Signup and view all the answers

<p>Terminal deletions involve the loss of a piece without the centromere, while interstitial deletions involve breaks at two places with reattachment of the remaining pieces.</p> Signup and view all the answers

<p>Inversions and translocations in cancer may disrupt tumor-suppressor genes or create fused proteins that stimulate cancer processes.</p> Signup and view all the answers

<p>Deletions in cancer may result in the loss of tumor-suppressor genes, which promotes unregulated cell division.</p> Signup and view all the answers

<p>Imbalances in gene products, Pseudodominance, Haploinsufficiency</p> Signup and view all the answers

<p>Cri-du-chat syndrome caused by a deletion on the short arm of chromosome 5</p> Signup and view all the answers