Aneuploidy by Michael Weiß https://padlet.com/mb2cfdjdk5/Bookmarks Timon P., Alex W., Michael W. en-us 2022-03-17 12:30:56 UTC 2025-11-10 00:02:30 UTC hello@padlet.com Angelika Amon 🇦🇹 timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121067528 Austrian molecular and cell biologist]]> 2022-03-30 08:43:18 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121067528 Professor at MIT in cancer research timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121074878 born and studied in Vienna
eventually ended up as professor at the MIT in cancer research
 
Research field:
how chromosomes are regulated, duplicated, and partitioned in the cell cycle
]]> 2022-03-30 08:47:51 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121074878 mb2cfdjdk5 https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121076347 Main reason:
-maternal nondisjunction during meiosis 

More rarely:
-chromosomal dislocation

-mosaicism]]> 2022-03-30 08:48:44 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121076347 Austrian Scientific Board timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121083773 - member of Austrian Scientific Board ]]> 2022-03-30 08:53:19 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121083773 Breakthrough Prize in Life Sciences 2019 timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121098753 Won the Breakthrough Prize in Life Sciences in 2019 

Recognizing her research determining the consequences of aneuploidy]]> 2022-03-30 09:04:15 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121098753 Hard Facts awatscher https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121105517 -most common type of human chromosome abnormality

-occurs in 3-4% of (clinically recognised) pregnancies

-abnormal chromosome number

-extra gonosomes more tolerable than autosomes ]]> 2022-03-30 09:09:35 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121105517 What is Aneuploidy? mb2cfdjdk5 https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121108936 2022-03-30 09:11:59 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121108936 timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121112692 The Breakthrough Prize in Life Sciences 

- largest award in science
- given to researchers who have made discoveries that extend human life
- worth 3 Million Dollars]]> 2022-03-30 09:14:56 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121112692 Nondisjuntion mb2cfdjdk5 https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121118449 The failure of chromosomes to disjoin normally during meiosis]]> 2022-03-30 09:18:48 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121118449 Mosaicism mb2cfdjdk5 https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121124722 A single organism possesses more than one genetic line as the result of genetic mutation.]]> 2022-03-30 09:23:35 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121124722 …somy awatscher https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121126373 Monosomy: one chromosome missing

Disomy: normal number of chromosomes

Trisomy: extra chromosome]]> 2022-03-30 09:24:52 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121126373 Specific aneuploidy Syndroms mb2cfdjdk5 https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121134292 -Down syndrome (Trisomy 21)

-Edwards syndrome (Trisomy 18)

-Turner syndrome (45, X)]]> 2022-03-30 09:30:52 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121134292 Resourcces: timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121140490 https://www.sciencedirect.com/topics/medicine-and-dentistry/aneuploidy;
https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02356;
https://ist.ac.at/en/news/congratulations-to-angelika-amon-member-of-the-scientific-board-of-ist-austria-for-winning-the-2019-breakthrough-prize/;
https://www.webmd.com/baby/what-is-trisomy-18;
https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782]]> 2022-03-30 09:35:48 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121140490 What causes Aneuploidy? mb2cfdjdk5 https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121152246 2022-03-30 09:45:08 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121152246 Austrian involvement timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121163336 2022-03-30 09:53:43 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2121163336 Down syndrome timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2123254010 2022-03-31 09:43:13 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2123254010 Edwards syndrome timonpfeifer https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2123255367 2022-03-31 09:44:11 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2123255367 Treatment awatscher https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2123267449 -no cure, only symptomatic treatment

-growth hormone therapy for Turner syndrome

-educational and behavioral therapy for Down syndrome

-palliative care for Edwards syndrome]]> 2022-03-31 09:53:33 UTC https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2123267449 Feedback veronikahmann https://padlet.com/mb2cfdjdk5/Bookmarks/wish/2123486592 good idea: chromosomes as background and arrows as connection 
well explained

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