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Karyogram
An image showing chromosomes ordered by size and position of centromere.
Number, sex, additional/missing and structural rearrangements
The sequence of a karyogram report
Interstitial deletion
DNA lost from the middle of a chromosome
Terminal deletion
DNA lost from the end of a chromosome
Fanconi's anaemia
A condition caused by multiple chromosome breaks, due to defect in DNA repair genes
Polyploidy
Where the chromosome number is a multiple of the haploid number (n), e.g. triploidy: 3n
Aneuploidy
Where the chromosome number is not a multiple of the haploid number (n), e.g. trisomy: 2n+1 = 47
Non-dysjunction
Failure of separation of homologous chromosome pairs, occurring during anaphase
Patau syndrome
A syndrome caused by trisomy of chromosome 13
Edwards syndrome
A syndrome caused by trisomy of chromosome 18
Down's syndrome
A syndrome caused by trisomy of chromosome 21
... are more likely to undergo non-dysjunction
Smaller chromosomes ...
P arm
The short arm (top arm) of a chromosome
Q arm
The long arm (bottom arm) of a chromosome
Centromere
The central component of a chromosome where the arms meet