Human Genome Structural Variation, Disease, and Evolution
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@adamleah Your best try is searching "16p11.2 16q12.1 duplication
" without quotes or similar in the PUBMED website. Some publications are free others are not. I've seen many new genetical, medical and psicological studies about duplications lately, so you might see something new coming up if you search again after few months. I think that there is much interest in duplications because of higher frequency that previously thought, and possible linking to autism.
MatazLMB 2 months ago
normalize ftw
Sc0ttPrian 6 months ago
@adamleah
What are the symptoms?
SuperLLL 7 months ago
last post continued: (16p11.2-16q12.1 duplication)
myself (12.4MB 33582714-45952128) and my brother (11.9MB 34071832-45952128) we have no noticeable clinical symptoms. my 5 year old boy - (11.8MB 34109660-45928657) with very mild clinical presentation. my 3 year old boy - (14MB 31943419-45952128) with significant clinical presentations. any thoughts are appreciated greatly. thanks in advance
Leah
adamleah 1 year ago
wondering if you can please tell us which disease genes are mapped in the regions of our duplications... we are in australia and our geneticist, neurologist and metabolic specialist explained our condition is rare and they do not know of any other cases. our neurologist has corresponded with american geneticists regarding their research studies. two of our 3 small children, myself and my brother have a ring duplication of chromosome 16p11.2-16q12.1
adamleah 1 year ago
tldr: Evolution is correct.
Darkaero199 1 year ago
Nice...can't read any slides. Some aren't there or colored over and was overall not informative
ltanner81 1 year ago