Jump to content
Main menu
Main menu
move to sidebar
hide
Navigation
Main page
Recent changes
Random page
Help about MediaWiki
Special pages
Niidae Wiki
Search
Search
Appearance
Create account
Log in
Personal tools
Create account
Log in
Pages for logged out editors
learn more
Contributions
Talk
Editing
Phocomelia
(section)
Page
Discussion
English
Read
Edit
View history
Tools
Tools
move to sidebar
hide
Actions
Read
Edit
View history
General
What links here
Related changes
Page information
Appearance
move to sidebar
hide
Warning:
You are not logged in. Your IP address will be publicly visible if you make any edits. If you
log in
or
create an account
, your edits will be attributed to your username, along with other benefits.
Anti-spam check. Do
not
fill this in!
===Genetic inheritance=== According to the National Organization for Rare Disorders (NORD), when phocomelia is transmitted (in its familial genetic form) it is seen as an autosomal recessive trait and the mutation is linked to chromosome 8.<ref name="nard">{{cite web|url=http://www.rarediseases.org/|title=Phocomelia Syndrome|date=11 October 2007|publisher = National Organization for Rare Disorders}}</ref> A study of [[Roberts syndrome]], a genetic disorder showing similar symptoms to phocomelia, has shed light on the possible causes.<ref>{{cite web|url=http://www.hopkinsmedicine.org/Press_releases/2005/04_11_05.html|title=Fifteen-Year Hunt Uncovers Gene Behind 'Pseudothalidomide' Syndrome|last=Vega|first=Hugo|date=11 April 2005|publisher=Johns Hopkins Medicine|access-date = 10 December 2007|display-authors=etal}}</ref> An individual afflicted with Roberts Syndrome will have chromosome copies that do not connect at the centromeres, making them unable to line up accordingly.<ref>{{cite journal |last1= Horsburgh |first1= Sheri |last2= Kasai |first2= Yumi |last3= Kolomeitz |first3= Elena |last4= Morel |first4= Chantal France |last5= Li |first5= Chumei |last6= Suk-King Goh |first6= Elaine |date= 2009 |title= The Roberts Syndrome/SC Phocomelia Spectrum - A Case Report of an Adult With Review of the Literature |url= https://ern-ithaca.eu/wp-content/uploads/2020/12/Goh_Robertsadults_AJMG2010.pdf |journal= [[American Journal of Medical Genetics]] |volume= 152 |pages= 472=478 |accessdate= 2023-04-25}}</ref> As a result, the newly made cells contain an excess or reduced number of chromosomes. In both Roberts syndrome and phocomelia the cells cease to develop, or die, preventing proper development of the limbs, eyes, brain, palate, or other structures.{{citation needed|date=October 2020}}
Summary:
Please note that all contributions to Niidae Wiki may be edited, altered, or removed by other contributors. If you do not want your writing to be edited mercilessly, then do not submit it here.
You are also promising us that you wrote this yourself, or copied it from a public domain or similar free resource (see
Encyclopedia:Copyrights
for details).
Do not submit copyrighted work without permission!
Cancel
Editing help
(opens in new window)
Search
Search
Editing
Phocomelia
(section)
Add topic