Mutations and Genetic Analysis Flashcards
Translocation - pieces of chromosomes rearranged but no genetic material is gained or lost in the cell.
Balanced Translocation
Exchange of chromosome material is unequal resulting in extra or missing genes
Unbalanced Translocation
Only acrocentric chromosomes affected in this translocation
Robertsonian Translocation
Name acrocentric chromosomes
13,14,15,21,22
Robertsonian Translocation
45 chromosomes
Two acrocentric chromosomes attach - common 13+14
14+21, 15+22
carrier is healthy
baby healthy if normal chromosome 13 and 14 passed, and if only one translocated (containing 13 and 14 passed)
problem - if translocated and on standalone chromosome passed - baby have extra - trisomy of either 13(patau - miscarry or some may survive) or 14(miscarry)