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Level 113

LC 16 - 30


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Reciprocal translocation
A type of translocation where chromosome segments are exchanged equally
Robertsonian translocation
A type of translocation where a whole chromosomal segment is transferred - no 'swapping'
Cri du chat syndrome
A syndrome caused by a deletion on chromosome 5
Haploid
n - one set of genes, e.g. a sperm cell
Diploid
2n - two sets of genes, e.g. fertilised egg cell
Triploidy
3n - three sets of genes - spontaneous abortion
Egg cell
The gamete cell that undergoes 'suspended animation', making it more likely to undergo non-dysjunction
Full trisomy 21 Down's syndrome
A type of Down's syndrome reported as 47, XY, +21
Translocation Down's syndrome
A type of Down's syndrome reported as (45, XY, t(14;21q))
Mosaic Down's syndrome
A type of Down's syndrome where non-dysjunction occurs during embryonic mitosis
Cardiac, facial and cognitive
Abnormalities of Down's syndrome
Death within two weeks, cardiac and cognitive
Abnormalities of Patau syndrome
Renal, cardiac, facial and growth deficiency
Abnormalities of Edwards syndrome
Turner syndrome
A sex chromosome abnormality affecting females caused by the loss of an X chromosome. Baby girls present with neck webbing
Triple X syndrome
A sex chromosome abnormality affecting females. Girls are taller and have delays in motor and language development