Large structural changes including deletions, duplications, inversions and translocations of chromosome segments.
Deletion removes a segment (cri-du-chat is a deletion of chromosome 5p), duplication repeats a segment, inversion flips it and translocation moves a piece to another chromosome (Philadelphia chromosome 9;22 in leukaemia). Large changes can disrupt gene dosage and meiosis.
Balanced rearrangements may have no effect on the carrier but cause unbalanced gametes.
Large structural changes including deletions, duplications, inversions and translocations of chromosome segments.
Chromosomal Mutations is one of the 54 topics in Genetics. It is rated Intermediate, so it suits learners who already know the core vocabulary. Related topics in this area include Down Syndrome, Genetic Drift, Karyotype.
A Robertsonian translocation can cause familial Down syndrome.
Work through the Beginner topics in Genetics first, such as Heredity, Gene, Allele, then return to Chromosomal Mutations. Intermediate topics assume the Beginner vocabulary.
The closest topics to Chromosomal Mutations are Down Syndrome, Genetic Drift, Karyotype, Point Mutations. Comparing them side by side is a good way to see how the ideas connect.
Read the summary and the in-depth section, then use the quick check on the interactive lesson for Chromosomal Mutations. To practise the whole of Genetics, use the Genetics quiz.
Chromosomal Mutations: Large structural changes including deletions, duplications, inversions and translocations of chromosome segments. Down Syndrome: A condition caused by an extra copy of chromosome 21, also called trisomy 21. Read both side by side and note what each one explains.
First, read the summary and write the definition in your own words. Second, read the in-depth section and note any example. Third, compare it with Down Syndrome and explain the difference aloud. Finally, take the Genetics quiz and come back to this page for any question you miss.
A condition caused by an extra copy of chromosome 21, also called trisomy 21.
🧬 GeneticsRandom changes in allele frequency that have strong effects in small populations, including the founder effect and bottleneck.
🧬 GeneticsAn organised picture of an individual's chromosomes arranged by size, used to detect abnormalities.
🧬 GeneticsChanges to a single nucleotide, classed as silent, missense or nonsense depending on the effect on the protein.
🧬 Genetics