Consequences Postzygotic mutation

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1 consequences

1.1 mosaicism

1.1.1 trisomy 21 mosaicism


1.2 somatic mutations
1.3 germ- line mutations





consequences

a large determinant of severity of consequences caused post- zygotic mutations when , occur. result consequences can range being negligible incredibly detrimental.


mosaicism

mosaicism arises after zygote has formed , mutation occurs during development. mutated cell line can passed down offspring if germ- cells affected.


when individual has inherited abnormality present in of cells. mutations dna code change, epigenetic alterations , chromosomal abnormalities, can occur later in development. result in 1 progeny cell line normal while other cell line(s) abnormal. result individual considered mosaic of normal , abnormal cells.


mosaicism occurrence of 2 or more cell lines different genotypes within single individual. different chimerism fusion of 2 zygotes, causing new single zygote 2 genotypes.


trisomy 21 mosaicism

trisomy 21 (down syndrome) 1 of prevalent chromosomal abnormalities amongst live births. of trisomy 21 pregnancies, approximately 80% end in spontaneous abortions or still-births. 1-5% of people diagnosed having down syndrome in fact high- grade trisomy 21 mosaics. rest of trisomy 21 mosaics marked low- grade mosaics, meaning chromosomal mutation occurs in less 3-5% of respective tissue. while high- grade trisomy 21 mosaics, demonstrate similar features full down syndrome, low- grade mosaics have tendency show milder features, effects quite variable depending on distribution of trisomic cells.


somatic mutations

somatic mutations result of change in genetic structure after fertilization. type of mutation involves cells outside of reproductive group , not transmitted future descendants.


germ- line mutations

germ- line mutations result of change in genetic structure of germ cells. these mutations able transmitted offspring , give rise constitutional mutation. constitutional mutations mutation when present in 1 cell, present in other cells associated organism.








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