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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
This microduplication is more common than the deletion; this might relate to the milder phenotype of the individuals. 22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and ...
Significant overlap exists between the phenotype of ring chromosome 22 and that of Phelan-McDermid syndrome, another chromosome 22 deletion syndrome. This is ascribed to a shared deletion of the SHANK3 gene at 22q13.3 .
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This gene is often missing in patients with 22q13.3 deletion syndrome (Phelan–McDermid syndrome), [9] although not in all cases. [10] Interactions.
22q11.2 deletion syndrome: Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated as q11.2. This region contains about 30 genes, but many of these genes have not been well characterized.
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Next, Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is a neurodevelopmental disorder with a high risk of autism spectrum disorder that was modeled in assembloids containing cortical and striatal organoids.