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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region. [2] Smaller microduplications may occur within this highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates within and distal to the DiGeorge syndrome region.
Dementia is a devastating condition that impacts up to 10 percent of older adults. And while there's no cure, getting diagnosed early can help patients get on a treatment plan and families prepare ...
A new study found the biggest risk factors and predictors at 60 for dementia at 80. ... These Telltale Signs at 60 May Develop Dementia Within 20 Years ... or have a family history of the disease ...
The shared symptoms mean that it is difficult for some women to spot the signs of dementia and Alzheimer’s, and instead mistake those symptoms for menopause. ... while Alzheimer’s is a ...
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