In this chapter, we have focused on chromosomal mutations resulting from a
change in number or arrangement
of chromosomes. In our discussions, we found many opportunities to consider
the methods and reasoning by which much of this information was acquired. From
the explanations given in the chapter, what
answers would you propose to the following fundamental questions?
(a) How do we know that the extra chromosome causing Down syndrome is usually
maternal in origin?
(b) How do we know that human aneuploidy for each of the 22 autosomes occurs
at conception, even though most often human aneuploids do not survive
embryonic or fetal development and thus are never observed at birth?
(c) How do we know that specific mutant phenotypes are due to changes in
chromosome number or structure?
(d) How do we know that the mutant Bar-eye phenotype in Drosophila is due to a
duplicated gene region rather than to a change in the nucleotide sequence of a
gene?