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Lecture 40 Prof Duncan Shaw.

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1 Lecture 40 Prof Duncan Shaw

2 Chromosome abnormalities
Numerical abnormalities - gain or loss of one or more whole chromosome(s) Includes aneuploidy (trisomy, monosomy) Structural abnormalities - chromosome breakage and rejoining in a different configuration Includes translocations, deletions, inversions Only a few are compatible with life

3 Aneuploidies

4 The cause of aneuploidy
Non-disjunction - failure of pairs of chromosomes to separate during meiosis I or II Probably usually due to ageing of oocyte, hence maternal age effect Environmental factors may also be important, e.g. radiation



7 Structural abnormalities
Translocation - transfer of part of one chromosome to another Reciprocal translocation Robertsonian translocation Deletions - loss of material from within a chromosome (usually lethal) Insertions - extra material added within a chromosome Inversion - section within a chromosome is turned around





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