Pre-natal and newborn screening (CABS) 0.0 / 5 ? BiologyCABSUniversityNone Created by: Keele1Created on: 05-02-23 17:31 The cause or set of causes of a disease or condition Aetiology 1 of 14 Conditions caused by an incorrect number of chromosomes in the body. Aneuploidy 2 of 14 Before birth Congenital 3 of 14 The type of mutation where the number of triplet repeats increases with each generation (off-spring) Dynamic 4 of 14 Unknown cause of disease Idiopathic 5 of 14 A point mutation where a single amino acid is altered in the protein leading to abnormal structure or function Missense 6 of 14 A live baby less than one month old Neonate 7 of 14 When somatic cells in an individual have a different genetic makeup Somatic mosaicism 8 of 14 A point mutation where a purine is replaced with a different purine Transition 9 of 14 A point mutation where a purine is replaced with a pyrimidine or vice versa Transversion 10 of 14 Aneuploidies that exist on autosomal chromosome (as opposed to the sex chromosomes). Trisomy 11 of 14 The process in females where one of the 2 X chromosomes in each cell is turned off during embryonic development X inactivation 12 of 14 A disease caused by triplet repeats Fragile X syndrome 13 of 14 The disease caused by Trisomy 21 Downs syndrome 14 of 14
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