Which human diseases are caused by defects in sister chromatid cohesion?

Answer 1

Pubmed Search ("ESCO2 protein, human"[Substance Name] OR "ESCO1 protein, human"[Substance Name] OR "MGC5528 protein, human"[Substance Name] OR "sororin, human"[Substance Name] OR "Shugoshin protein, human"[Substance Name]) Limits: Humans


http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000001

just run "Aneuploidy" in all NIH databases. you will get some interesting results.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=search&term=%22Aneuploidy%22%5BMeSH%5D

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=search&term=%22Aneuploidy%22%5BMeSH%5D


I believe the following is not good enough, since it is a different subject

cohesion AND ("Sister Chromatid Exchange/genetics"[MeSH] OR "Sister Chromatid Exchange/immunology"[MeSH] OR "Sister Chromatid Exchange/physiology"[MeSH])

Answer 2

These diseases are classified as Aneuploidy. The most common is down syndrome, which is caused when chromatids for chromosome number 21 do not split during mitosis and the gamete with 2 copies takes part in fertilization. I have listed some other occurrences of aneuploidy below, but most simply result in miscarriage. I should also mention that discounting the sex chromosome disorders, Down syndrome is by far the best of these; the others are fairly horrific.

Cri du chat syndrome: missing short end of #5
Edwards syndrome: three copies of #18
Patau syndrome: three copies of #13
Warkany syndrome 2: three copies of #8

Triple X syndrome: XXX
Klinefelter's syndrome: XXY
XYY syndrome (super males): XYY

Hope that helps, you can probably looks those up specifically on wikipedia for more info.

Answer 3

Whats wrong with your sister?