What does the list show?
Q: What does the list show?
A: The list shows the most common genetic disorders in humans, along with the type of mutation and chromosome involved (if known).
Q: What is a point mutation?
A: A point mutation is a mutation that affects a single nucleotide.
Q: What is a deletion?
A: A deletion is when one or more genes are missing.
Q: What is a whole chromosome aberration?
A: A whole chromosome aberration is when an entire chromosome is either extra, missing, or both.
Q: What are trinucleotide repeat disorders?
A: Trinucleotide repeat disorders are disorders in which a gene is extended in length.
Q: Are there other inherited conditions besides the ones listed?
A: Yes, there are many other conditions that are partly or wholly inherited, but whose genetic basis is not yet clear.
Q: What is an example of an inherited condition whose genetic basis is not yet clear?
A: An example of an inherited condition whose genetic basis is not yet clear is cleft lip and palate, which occurs more frequently in some populations than others and is currently being investigated by around 20 genes.
