University:
Swansea University
Course:
PM-149 | Genetics, Genomics & Evolution
Academic year:

2023
Views:

497

Pages:

3
Author:

Amal J.

Translocation: reciprocal and non-reciprocal I) reciprocal - 2 chromosomes reciprocally exchange information II) non-reciprocal - fragment from one chromosome is exchange to another non-homologous chromosome - alternate segregation - N1N2/T1T2, all viable - adjacent-1 segregation - duplication & deletion, N1T2/T1N2, no viable - adjacent-2 segregation - N1T1-T2N2, no viable * Nullisomy - a pair of chromosome is absent (2n-2) * Monosomy - (2n-1), Turner syndrome * Trisomy - (2n+1) Down syndrome * Tetrasomy - (2n+2) * Double nullisomy - (2n-2-2) * Double monosomy - (2n-1-1) * Double trisomy - (2n+1+1) * Double tetrasomy -(2n+2+2) Q: 2 child - down syndrome, father's brother - DS, father's sister (2) - DS Familial down syndrome Parent carrier → 45 children → 46 - DS, but have 3 copies of genes of 21st chromosome Uniparental disomy Sometimes → both chromosomes are inherited from the same parent E.g. sporadic retinoblastoma → mis-segregation Uniparental disomy: carrier x carrier = more chances for disease

Chromosome Translocation

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